July 24, 2025

[A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the

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Clinical features of x-linked intellectual developmental disorder show gene mutations in a large family, suggesting genetic inheritance patterns.

The large family displayed symptoms of x-linked intellectual developmental disorder, with 9 affected individuals across 3 generations.
Genetic analysis revealed a deletion of exons 2-3 of the ube2a gene in the proband and his uncle, with inheritance from the mother.
Key clinical symptoms included 100% prevalence of mental retardation and 97% prevalence of speech impairment among affected individuals.
The findings highlight the need for early diagnosis to inform better management strategies and improve reproductive outcomes.

Xu et al. (2025) studied this question.

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Clinical features of x-linked intellectual developmental disorder show gene mutations in a large family, suggesting genetic inheritance patterns.