For questions regarding permissions or whether a specified use is allowed, SOX2-specific laboratory technical considerations. recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two CMA is often used as a first step. distributors, and/or translators comply with the GeneReviews Copyright Notice and Usage Medical Genetics: Mosaicism - Lucile Packard Children's Hospital SOX2 - Oxford Academic Julian LM, McDonald AC, Stanford WL. Centers for Disease Control and Prevention. Some of these specialists include teachers for the visually impaired, low vision therapists and low vision specialists. usta tennis court construction specifications / why is rebecca lowe hosting olympics / sox2 anophthalmia syndrome life expectancy. . Pavone P, Cho SY, Pratic AD, Falsaperla R, Ruggieri M, Jin DK. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. Bilateral anophthalmia and/or microphthalmia. sox2 anophthalmia syndrome life expectancy Ted has Sox2 anophthalmia syndrome, caused by an unbalanced translocation of Chromosomes 3 and 14 and a microdeletion of Chromosome 3. Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, The following section deals with genetic Gerth-Kahlert et al [2013], Chassaing et al [2014], Suzuki et al [2014], Mauri et al [2015], Zanolli et al [2020]. Lenz microphthalmia syndrome: In addition to small eyes, people with this syndrome may have uncontrolled eye movements, learning issues and problems with the skeletal and urinary systems. Anophthalmia is the absence of one or both eyes. Polyadenylation signal variants are assoc w/familial anophthalmia. Both the globe (human eye) and the ocular tissue are missing from the orbit. SOX2 anophthalmia syndrome - North Carolina State University The genetic architecture of microphthalmia, anophthalmia and coloboma. 5. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. SOX2 anophthalmia syndrome. 2008 Mar 24;14:583-92. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. sox2 anophthalmia syndrome life expectancy Together they are the most common cause of childhood sight impairment registration in England and Wales (18.4% of children). Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. SOX2 Anophthalmia Syndrome | Encyclopedia MDPI About: SOX2 anophthalmia syndrome - North Carolina State University Note: There may not be clinical trials for this disorder. Ages 3-5 years. In 2007, on average, persons with Down syndrome lived to be about 47 years old. This includes prescription products and supplements. Bilateral microphthalmia is the term for when the condition affects both eyes. ED. Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary. Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Mol Vis. status for family members; it is not meant to address all personal, cultural, or Repeat MRI if change in neurologic status. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Anophthalmia and microphthalmia | March of Dimes It is an early marker of neurulation in chick embryos and shows site- and stage-specific expression in the developing nervous system, genital ridge, and foregut in all vertebrates studied. Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate. SOX2 anophthalmia syndrome Also known as: AEG syndrome, Anophthalmia-esophageal-genital syndrome, SOX2-related eye disorders, syndromic microphthalmia 3 About Description and symptoms Communities Support groups for Sox2 Anophthalmia Syndrome Providers Healthcare providers in the area Research driver refresher course for seniors; vawa cases approved 2022 immihelp; Each of the hypothetic explanations for the embryonic origin of the small or missing eyes associated with SOX2 pathogenic variants predicts a different spectrum of clinical phenotypes. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader - PubMed Prostheses: Consider optically clear expanders to stimulate growth of the orbit & periorbital tissues. Almost all SOX2 pathogenic variants reported to date appear to represent heterozygous loss of function; thus, it is difficult to draw genotype-phenotype correlations. Congenital anophthalmia is a developmental disorder in which the eye does not develop or is underdeveloped. There are early intervention services to help your child learn and support groups to help your family and your child succeed. Anophthalmia and microphthalmia | Orphanet Journal of Rare Diseases c/o Center for Developmental Medicine and Genetics, A cytogenetically visible deletion of 3q26.33 that either encompasses, Professor Veronica van Heyningen for continued helpful collaboration, MACS family support organization for their interest and support, 30 July 2020 (bp) Comprehensive update posted live, 31 July 2014 (me) Comprehensive update posted live, 25 August 2009 (me) Comprehensive update posted live, 7 March 2008 (cd) Revision: FISH analysis available clinically, 5 December 2007 (cd) Revision: deletion/duplication analysis available clinically. As the lung develops, cells become specified and differentiate into the various cell lineages. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, whole-exon or whole-gene deletions/duplications are not detected. W/attention to brain/pituitary malformations, optic nerve/chiasm/tract. Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Unilateral microphthalmia is the term for when the condition affects only one eye. Genetic counseling is the process of providing individuals and families with The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. PDF Case Report Two Cases of Anophthalmia and Quality Of Life Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided. Novel SOX2 partner-factor domain mutation in a four-generation family. silobration vendor application 2022 Direct reprogramming with SOX factors: masters of cell fate. Two Cases of Anophthalmia and Quality Of Life - ResearchGate Consider referral to ophthalmo-plastic surgeon for children w/anophthalmia & extreme microphthalmia. Microphthalmia - Wikipedia Each child of a female proband with a constitutional. Epub 2008 ~50% of affected individuals had DD or autism. (PDF) Case Report: Anophthalmia | Duong Dieu - Academia.edu Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Consider referral to urologist for cryptorchidism or other genital malformations. Genital abnormalities. How do people inherit SOX2 syndrome? Ocular features almost identical to those frequently observed in, Brain features almost identical to those of, Esophageal atresia/tracheo-esophageal fistula & dystonia are not assoc w/, Bilateral microphthalmia &/or coloboma, iris hypoplasia, cataract, lens subluxation. anophthalmia has a 1 in 8 chance of having another child with anophthalmia [4]. The majority of affected individuals have some evidence of hypothalamic-pituitary axis dysfunction when detailed measurement of growth hormone and gonadotropins is undertaken [Tziaferi et al 2008]. The diagnosis can be made based on observation. See Table A. In addition to a pediatrician or internist, someone with either of these conditions will probably need an ophthalmologist, an ocularist and an oculoplastic surgeon. mutual life insurance companies list. Septum pellucidum defects, cerebellar hypoplasia, hypothalamic hamartoma, arachnoid cyst, and sellar or suprasellar tumors are also reported in multiple individuals [Ragge et al 2005, Sisodiya et al 2006, Gerth-Kahlert et al 2013, Blackburn et al 2018]. Symptoms include poor vision or even complete vision loss. Both the globe (human eye) and the ocular Variable expressivity is observed with some recurrent pathogenic variants (Table 7). SOX2 disorder should be considered in individuals with the following clinical and brain MRI findings and family history. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. SOX2 anophthalmia syndrome University of Edinburgh Research Explorer The estimated risk depends on the specific chromosome rearrangement. SOX1 (OMIM 602148), SOX2, and SOX3 (OMIM 313430) belong to the B1 subfamily and are expressed in various phases of embryonic development and cell differentiation, in which . Prosthetic eyes: Prosthetic eyes are placed in empty eye sockets. Your provider will be able to tell if your baby has microphthalmia or anophthalmia by looking carefully during a physical examination and doing an eye exam. Anophthalmia means that one or both eyes dont develop at all so they are missing. Genes of Interest in the Differential Diagnosis of SOX2 Disorder. It is so rare it occurs in one in 250,000 people. Occasionally hypospadias is observed. Approximately 60% of individuals diagnosed with, One individual with unilateral anophthalmia had a similarly affected mother [, Maternal transmission of an identical and recurrent pathogenic variant has been observed in two families: a four-generation family with eye defects ranging from microcornea or retinal tuft with refractive error to bilateral anophthalmia [, A mother with a pathogenic variant (heterozygous or high-level mosaicism) who was minimally affected with isolated hypogonadotropic hypogonadism had two affected children: one with bilateral anophthalmia and subtle endocrine abnormalities and the other with unilateral microphthalmia with coloboma [, Maternal somatic/germline mosaicism was reported in four families with sib recurrence of, Recommendations for the evaluation of the parents of a proband with an apparent, Molecular genetic testing (ideally of parental DNA extracted from more than one tissue source, e.g., leukocytes and buccal cells) if the proband has an intragenic. An IEP provides specially designed instruction and related services to children who qualify. Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzlez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. Surveillance: Routine follow up with specialists managing the vision, educational, endocrine, and neurologic manifestations. Microphthalmia, anophthalmia and coloboma (MAC) are a group of birth eye conditions that affect 3 to 30 per 100,000 newborns. sox2 anophthalmia syndrome life expectancy religious interview questions and answers sharleen spiteri ashley heath . Errichiello E, Gorgone C, Giuliano L, Iadarola B, Cosentino E, Rossato M, Kurtas NE, Delledonne M, Mattina T, Zuffardi O. SOX2: Not always eye malformations. Frequently cryptorchidism and/or micropenis in males (commonly a manifestation of hypogonadotropic hypogonadism); infrequently uterus hypoplasia and ovary or vaginal agenesis in females, Tracheoesophageal fistula and/or esophageal atresia, Delayed motor development/ learning disability, Spasticity, dystonia, or status dystonicus, For an introduction to multigene panels click, Unilateral anophthalmia or microphthalmia and a normal eye, Unilateral anophthalmia with cataract in the contralateral eye, Unilateral microphthalmia with coloboma or iris defect in the contralateral eye, Bilateral or unilateral congenital aphakia, Anterior segment dysgenesis (including sclerocornea or microcornea), A monozygotic twin with tracheoesophageal fistula and unilateral reduced palpebral fissure whose twin had unilateral anophthalmia as part of anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome [, A sibling fetus in a family with AEG syndrome, with brain anomalies and 11 rib pairs [, A woman with intellectual disability, corpus callosum agenesis, hypogonadotropic hypogonadism, vaginal agenesis, and spastic paraparesis [, A mother (with either heterozygosity or a high level of mosaicism of the, Two individuals identified in an intellectual disability cohort with mild microcornea, delayed speech and walking, esophageal stenosis, hearing deficits and mild facial hypoplasia in one; and strabismus, delayed speech, dystonic movements and spastic diplegia, hypogonadotropic hypogonadism, and corpus callosum and hippocampus malformation in the other individual [, Three individuals with mild ocular defects (esotropia, macro excavated optic disc, or thin retinal layer) and a combination of developmental delay, seizures, hypotonia or dystonia, tracheoesophageal fistula, suprasellar teratoma, and gonadal dysgenesis [. The life expectancy of people with Down syndrome increased dramatically between 1960 and 2007. For those w/micropenis, refer to endocrinologist for consideration of eval for hypogonadotropic hypogonadism. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. SOX2 @ The Human Genetics Unit Edinburgh U.K. Gene-targeted deletion/duplication analysis, ~24% (~21% that could also be resolved by CMA & ~3% that are below the limit of detection by CMA), Bilateral microphthalmia &/or anophthalmia, Bilateral anophthalmia, optic disc aplasia/hypoplasia, Bilateral microphthalmia, coloboma, cataract, Unilateral or bilateral microphthalmia &/or anophthalmia. MRI stands for magnetic resonance imaging. Data and Statistics on Down Syndrome | CDC Isotretinoin treats acne. Microphthalmia, Syndromic 3 - MeSH Browser Facts about Anophthalmia and Microphthalmia. Br J Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. Need for social work involvement for parental support. most nfl players by state per capita; press back chairs history; how to cut rubber backed carpet tiles; cape verdean tuna recipes. Policy. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click The SOX2-associated ocular malformations are variable in . Reported heterozygous deletions of 3q26.33 involving SOX2 (~2%-3% of affected individuals, increasing to ~20% of affected individuals with bilateral anophthalmia/severe microphthalmia) [Williamson & FitzPatrick 2014; Author, unpublished data] include: Initial Posting: February 23, 2006; Last Update: July 30, 2020. Hagstrom SA et al: 20126410: 2010: SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas. This is a rare disorder that can cause a child to be born without eyeballs. The incidence of parental germline mosaicism in, The family history of some individuals diagnosed with, If a parent is affected and/or has the genetic alteration identified in the proband, the risk to the sibs of inheriting the genetic alteration is 50%. For clarity, excerpts SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. Affected families are of Middle Eastern ethnicity. Biology | Free Full-Text | Genetic Variants in Protein Tyrosine Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. Dystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency. demonstrating broader phenotype and high frequency of large gene deletions. silobration vendor application 2022 - laoiscivildefence.org Zenteno JC, Perez-Cano HJ, Aguinaga M. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. SOX2 anophthalmia syndrome: 12 new cases However, there are treatments that include: Theres no way to completely eliminate your risk of microphthalmia and anophthalmia, but there are ways to make pregnancy safer: Theres no cure for microphthalmia or anophthalmia. In general, retina tissue that is present has some functional activity. genetic conditions. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Microcornea: A microcornea is a cornea thats very small. Tziaferi V, Kelberman D, Dattani MT. SOX2 encodes the transcription factor SOX2 (317 amino acids) which has an HMG DNA-binding domain (amino acids 40-111), a partner-binding region, and a C-terminal transactivation region. National Library of Medicine. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. The Verge - klgzp.lesthetiquecusago.it The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. Always go to your appointments, even if you feel fine. Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Treatment of manifestations: Treatment usually involves a multidisciplinary team including as needed an experienced pediatric ophthalmologist, ophthalmo-plastic surgeon (for children with anophthalmia and/or extreme microphthalmia), and early educational intervention through community vision services and/or school district; educational support for school-age children; pediatric endocrinologist; pediatric neurologist; and physical therapist and occupational therapist. If you have it, your cornea doesnt reach 10 mm in diameter even when youre an adult. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. The following information represents typical management recommendations for individuals with developmental delay/ intellectual disability in the United States; standard recommendations may vary from country to country. affected daughters. Being exposed to chemicals, like drugs or pesticides, during pregnancy. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. University of Edinburgh The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Services to help a child and their family deal with vision loss or blindness. Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Microphthalmia is when one or both of a baby's eyes are small. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Causes: SOX2: The most genetic based cause for anophthalmia is caused by the SOX2 gene. Edinburgh, United Kingdom, Consultant in Pediatric Genetics, MRC Human Genetics Unit The mutation of the sox2 gene causes sox2 Anophthalmia syndrome. Anophthalmia-esophageal atresia-genital abnormalities (AEG) syndrome was previously reported to be a distinct disorder, but is now known to be associated in some individuals with heterozygous pathogenic loss-of-function variants in SOX2 [Williamson et al 2006, Zenteno et al 2006]; thus, it appears that esophageal atresia with or without tracheoesophageal fistula is a feature of SOX2 disorder and not a separate condition. INTRODUCTION SOX2 anophthalmia syndrome is an autosomal "Anophthalmia is the absence of one or both eyes. SOX2 anophthalmia syndrome: MedlinePlus Genetics Orphanet J Rare Sox2 Anophthalmia Syndrome Sox2-Related Eye Disorders Syndromic Microphthalmia 3 Registry Number 0 Heading Mapped to *Esophageal Atresia *Microphthalmos *Nervous System Malformations Frequency 7 Note PROM mutation in SOX2 Date of Entry 2012/11/05 Revision Date 2013/10/24. The PI3K-Akt signaling pathway is likely to be involved in mesiodens pathogenesis because Sox2-positive odontogenic epithelial stem cells have been demonstrated to contribute to supernumerary tooth formation [87,90] and mutations in SOX2 have been reported to be associated with syndromic supernumerary teeth in SOX2 anophthalmia syndrome [91 . ethical issues that may arise or to substitute for consultation with a genetics Contact a health care provider if you have questions about your health. Schneider A, Young TL. Abstract Heterozygous, de novo, loss-of-function mutations in SOX2 have been shown to cause bilateral anophthalmia. Your provider may suggest genetic testing before you get pregnant after discussing your medical history and your family history. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome. club elite rhythmic . Anophthalmia is when a baby is born without one or both of their eyes. Microphthalmia, anophthalmia, coloboma (MAC): for patients PDF Two Cases of Anophthalmia and Quality of Life information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Note: The severity of disease and specific clinical findings vary and cannot be accurately predicted by the family history or results of molecular genetic testing. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Fryns Microphthalmia Syndrome disease: Malacards - Research Articles Approximately 2/3 of all cases of anophthalmia are determined to be of genetic basis. i told him i miss him and he said aww; la porosidad es una propiedad extensiva o intensiva A congenital condition is one that you have when youre born. genomic testing, which does not require the clinician to determine which gene is likely involved, is an option when SOX2 disorder is not an easily achievable diagnosis. (PDF) SOX2 Syndrome: A Case with Typical Clinical Profile - ResearchGate The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay/ intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements. NAA10 polyadenylation signal variants cause syndromic microphthalmia. Khler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gmez-Andrs D, Lochmller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. For a review article see Julian et al [2017]. organizations. 23. Disclaimer. No phenotypes other than those discussed in this GeneReview are known to be associated with heterozygous pathogenic variants in SOX2. Pilz RA, Korenke GC, Steeb R, Strom TM, Felbor U, Rath M. Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations. 2006 Feb 23 [Updated 2020 Jul 30]. Its a question of managing these conditions and any other conditions that might occur with them. Syndromic microphthalmia, type 3 - Living with the Disease - Genetic Here we provide a detailed description of the clinical features associated with SOX2 mutations in the five individuals with reported mutations and four newly identified cases (including the first reported SOX2 missense mutation). The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. There are many ways to receive support: Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. silobration vendor application 2022dream about someone faking their death noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright ( 1993-2023 University of Microphthalmia means that one eye or both eyes dont develop fully so they are small and disorganized. It encompasses all individuals with a SOX2 pathogenic variant who should be evaluated for medically actionable manifestations across the entire phenotypic spectrum (regardless of clinical findings that prompted molecular genetic testing). Permission is The term "SOX2 disorder" is used in this GeneReview to refer to the complete phenotypic spectrum associated with heterozygous SOX2 pathogenic variants. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Malformation and/or gray matter heterotopia of the mesial temporal structures (hippocampal and parahippocampal), pituitary hypoplasia, and agenesis or dysgenesis of the corpus callosum are core features of SOX2 disorder. Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. Genetic Issues with A/M - ican - Anophthalmia Embryology, Eye Malformations Article - StatPearls SOX2 is a single exon transcription factor previously associated with anophthalmia [ 18, 19 ], microphthalmia [ 20 ], and coloboma [ 21 ]. General Information - ican - the International Children's Anophthalmia