September 10, 2025Journal of Medical Case ReportsOpen Access

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

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Authors

TCT. Campos ABAndréa Bernardes IPIrene Plaza PintoPontifícia Universidade Católica de Goiás

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Implication

Case report identifies a new usp9x mutation causing intellectual disability in a female patient, indicating genetic research is crucial for understanding disorders.

Key Points

The detected mutation results in loss-of-function of the usp9x gene, leading to severe intellectual disability and structural anomalies.
A specific cytosine-to-thymine substitution provoked a premature stop codon, confirmed as pathogenic through genetic testing.
A comprehensive approach included whole exome sequencing which highlighted the challenges of diagnosing x-linked syndromic disorders.
Genetic investigation underscores the value of research in managing female-restricted x-linked syndromic intellectual developmental disorder-99.

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Campos et al. (2025) studied this question.

synapsesocial.com/papers/68c23f1fb210217d6479519a https://doi.org/10.1186/s13256-025-05456-z

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Implication

Case report identifies a new usp9x mutation causing intellectual disability in a female patient, indicating genetic research is crucial for understanding disorders.

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

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Cite This Study

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

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