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Article

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

American journal of medical genetics. Part A - 1 May 2021

Meira Joanna Goes Castro, Magalhães Bruna Souza, Ferreira Isabella Brige Bonifácio, Tavares Dione Fernandes, Kobayashi Gerson Shigeru, Leão Emília Katiane E A

Abstract excerpt

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...

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Identifiers

PMID: 33638286
DOI: 10.1002/ajmg.a.62141

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