Summary

Hum Genome Var. 2019 Sep 4;6:43. doi: 10.1038/s41439-019-0074-6. eCollection 2019.

A novel CUL4B splice site variant in a young male exhibiting less pronounced features.

Abstract:

Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype-phenotype correlations in CUL4B-related disorders.

日本語要旨:

CUL4Bのスプライスサイトの変異は症状に及ぼす影響が少ない

PMID:  31645981

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