Journal article

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Margot RF Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Rolph Pfundt, Ka Man Wu, Conny MA van Ravenswaaij-Arts, Hermine E Veenstra-Knol, Britt-Marie M Anderlid, Stephen A Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M Marcelis, Maaike Vreeburg Show all

Am J Hum Genet | Published : 2016


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, progressi..

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