Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

In this report we describe six new cases, four of which carry novel pathogenicSOX2 variants. Four cases presented with bilateral anophthalmia in addition to extraocular involvement. Another individual presented with only unilateral anophthalmia. One individual did not have any eye findings but presented with a suprasellar teratoma in infancy and was found to have the recurrent c.70del20 mutation inSOX2 (c.70_89del, p.Asn24Argfs*65). This is this first time this tumor type has been reported in the context of a de novoSOX2 mutation. Notably, individuals with hypothalamic hamartomas and slow ‐growing hypothalamo‐pituitary tumors have been reported previously, but it is still unclear howSOX2 loss contributes to their formation.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: RESEARCH ARTICLE Source Type: research