Microphthalmia is not a mandatory finding in X ‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Mutations inBCOR cause X ‐linked dominant and X‐linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrentBCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X ‐linked recessiveBCOR‐associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability ofBCOR‐associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.

Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Cornelia Kraus, Steffen Uebe, Christian T. Thiel, Arif B. Ekici, Andr é Reis, Christiane Zweier Tags: CLINICAL REPORT Source Type: research