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:	Pediatrics medicine.medical_specialty business.industry media_common.quotation_subject medicine.disease Intellectual disability Genetics Medicine Rare syndrome Neurodevelopmental delay Girl business Genetics (clinical) media_common
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::b4d9261f4af501c19ff50bcfc3362289 https://doi.org/10.1002/ajmg.a.62141 Zobrazit plný text záznamu Plný text