De Novo Loss-of-Function Mutations in Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities.

Source: The American Journal of Human Genetics - January 28, 2016 Category: Genetics & Stem Cells Authors: Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij-Arts, Hermine E. Veenstra-Knol, Britt-Marie M. Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Bar Tags: Report Source Type: research