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

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-05, Vol.185 (5), p.1569-1574
Main Authors: Meira, Joanna Goes Castro, Magalhães, Bruna Souza, Ferreira, Isabella Brige Bonifácio, Tavares, Dione Fernandes, Kobayashi, Gerson Shigeru, Leão, Emília Katiane E. A.
Format: Article
Language:English
Subjects:
congenital anomalies
Congenital defects
Intellectual disabilities
intellectual disability
Literature reviews
USP9X
X‐linked
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62141