Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review

Autor: Dione Fernandes Tavares, Bruna Souza Magalhães, Emília Katiane Embiruçu de Araújo Leão, Joanna Goes Castro Meira, Gerson Shigeru Kobayashi, Isabella Brige Bonifácio Ferreira
Rok vydání: 2021
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 185:1569-1574
ISSN: 1552-4833
1552-4825
Popis: Heterozygous variants in USP9X are associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome characterized by neurodevelopmental delay, intellectual disability (ID), and a wide variety of additional congenital anomalies. Here, we report a girl harboring a novel de novo loss-of-function variant in USP9X (c.4091delinsAG, p.Thr1364Lysfs*7), and literature review revealed novel prenatal features associated with MRXS99F, expanding the genotypic and phenotypic landscape of the syndrome. It is important to consider X-linked diseases in girls with ID and perform directed molecular investigation to provide correct diagnosis and prognosis.
Databáze: OpenAIRE