c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

Abstract Background Female-restricted X-linked syndromic intellectual developmental disorder-99 is an ultrarare neurodevelopmental disorder linked to X, manifesting in female individuals due to mutations in the USP9X gene. It is characterized by developmental delays, behavioral alterations, and mode...

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Main Authors: Talyta Alves da Silva Campos, Alex Honda Bernardes, Irene Plaza Pinto, Hiane Aparecida da Silva Teixeira, Juliana Ferreira da Silva, Victor Cortázio do Prado Santos, Raffael Zatarin, Aparecido Divino da Cruz
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Journal of Medical Case Reports
Subjects:
MRXS99F
USP9X
Neurodevelopmental disorder
Developmental delay
Case report
Online Access:https://doi.org/10.1186/s13256-025-05456-z
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