Identification of Two Novel Missense Variants in <i>BNC1</i> 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.
Authors
- Shuting Ren (ORCID: https://orcid.org/0009-0008-6016-4476)
- Xiaojin Zhang (ORCID: https://orcid.org/0000-0001-6624-2377)
- Yuncheng Pan
- Yanhua Wu (ORCID: https://orcid.org/0000-0002-2803-809X)
- Yifei Zhang (ORCID: https://orcid.org/0000-0003-0291-3922)
- Feng Zhang (ORCID: https://orcid.org/0000-0003-4556-8276)
- Jitong Mo
Institutions
- Fudan University (CN)
- Obstetrics and Gynecology Hospital of Fudan University (CN)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-10-27
- DOI
- https://doi.org/10.1111/cge.14639
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China