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

Autor: Pan Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Mo J; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Ren S; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang F; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China., Zhang X; Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China., Wu Y; School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 117-119. Date of Electronic Publication: 2024 Oct 27.
DOI: 10.1111/cge.14639
Abstrakt: 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.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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