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

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

American journal of medical genetics. Part A 2021 May

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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. © 2021 Wiley Periodicals LLC.

Citation

Joanna Goes Castro Meira, Bruna Souza Magalhães, Isabella Brige Bonifácio Ferreira, Dione Fernandes Tavares, Gerson Shigeru Kobayashi, Emília Katiane E A Leão. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. American journal of medical genetics. Part A. 2021 May;185(5):1569-1574