De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

doi:10.1002/ajmg.a.38034

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Article

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

American journal of medical genetics. Part A - 1 Feb 2017

Dennert Nicola, Engels Hartmut, Cremer Kirsten, Becker Jessica, Wohlleber Eva, Albrecht Beate, Ehret Julia K, Lüdecke Hermann-Josef, Suri Mohnish, Carignani Giulia, Renieri Alessandra, Kukuk Guido M, Wieland Thomas, Andrieux Joris, Strom Tim M, Wieczorek Dagmar, Dieux-Coëslier Anne, Zink Alexander M

Abstract excerpt

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...

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PMID: 27862890
DOI: 10.1002/ajmg.a.38034

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SOX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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