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• W2550557891 abstract "Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, phenotype first analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay. The present report describes three patients without anophthalmia/microphthalmia and loss-of-function mutations or microdeletions of SOX2 who had been investigated in a genotype first manner due to intellectual disability/developmental delay using whole exome sequencing or chromosomal microarray analyses. This result prompted us to perform SOX2 Sanger sequencing in 192 developmental delay/intellectual disability patients without anophthalmia or microphthalmia. No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. In our three patients and four further, reported genotype first SOX2 microdeletion patients, anophthalmia/microphthalmia was present in less than half of the patients. Thus, SOX2 is another example of a gene whose clinical spectrum is broadened by the generation of genotype first findings using hypothesis-free, genome-wide methods. © 2016 Wiley Periodicals, Inc." @default.
• W2550557891 created "2016-11-30" @default.
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• W2550557891 date "2016-11-14" @default.
• W2550557891 modified "2023-09-27" @default.
• W2550557891 title "De novo microdeletions and point mutations affecting <i>SOX2</i> in three individuals with intellectual disability but without major eye malformations" @default.
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• W2550557891 doi "https://doi.org/10.1002/ajmg.a.38034" @default.
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