Identification of Two Novel Missense Variants in BNC1 in Han Chinese Patients With Non‐syndromic Premature Ovarian Insufficiency

Two novel heterozygous missense mutations in BNC1 (NM_001717): c.1000A>G (p.Arg334Gly) and c.1535C>T (p.Pro512Leu) were identified through whole‐exome sequencing in two Han Chinese POI patients, expanding the spectrum of BNC1 variants in non‐syndromic POI diseases.

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Bibliographic Details
Published in:Clinical genetics 2025-01, Vol.107 (1), p.117-119
Main Authors: Pan, Yuncheng, Mo, Jitong, Ren, Shuting, Zhang, Yifei, Zhang, Feng, Zhang, Xiaojin, Wu, Yanhua
Format: Article
Language:English
Subjects:
Adult
BNC1
China
DNA-Binding Proteins - genetics
East Asian People - genetics
Exome Sequencing
Female
gene expression
Genetic Predisposition to Disease
Humans
Missense mutation
Mutation, Missense - genetics
premature ovarian insufficiency (POI)
Primary Ovarian Insufficiency - genetics
Transcription Factors - genetics
Whole genome sequencing
whole‐exome sequencing
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Description
Summary:Two novel heterozygous missense mutations in BNC1 (NM_001717): c.1000A>G (p.Arg334Gly) and c.1535C>T (p.Pro512Leu) were identified through whole‐exome sequencing in two Han Chinese POI patients, expanding the spectrum of BNC1 variants in non‐syndromic POI diseases.
ISSN:0009-9163
1399-0004
1399-0004
DOI:10.1111/cge.14639