Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder

Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder

Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants. Methods Whole-exome...

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Bibliographic Details
Main Authors: Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Syndromic neurodevelopmental disorder
SMARCC2
Novel splicing variant
cDNA sequencing
Crystal structure analysis
Online Access:https://doi.org/10.1186/s13023-024-03510-5
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https://doi.org/10.1186/s13023-024-03510-5

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