Work

A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing

Year: 2023

Type: article

Abstract: Background: Premature ovarian insufficiency (POI) results in the loss of ovarian function and reproductive impairment. The cause of most cases of POI is unclear, although genetic factors are thought to be involved. This study aimed to identify novel pathogenic genes and variants in a Chinese family with POI.Results: An assessment of the family pedigree suggested that POI was inherited in an autosomal dominant manner in this family. Whole-exome sequencing of the proband and her affected mother identified a novel heterozygous missense variant in the laminin subunit gamma-1 gene (LAMC1; NM_002293.4:c.A3281T:p.D1094V). This variant was not found in any public databases, and was highly conserved among mammals. Online software predicted it to be deleterious with respect to protein function. Its presence in the POI family was confirmed by Sanger sequencing.Conclusions: We report a novel heterozygous missense variant in LAMC1 in a Chinese POI family, which was inherited in an autosomal dominant manner. This variant may result in the development of POI. Our results provide supporting evidence for a causative role for LAMC1 variants in POI.

Source: Gynecological Endocrinology

DOI: 10.1080/09513590.2023.2265507

Authors: Huanfang Xu, Chunyan Wang, Han Wei, Tengyan Li, Yigong Fang, Binbin Wang

Institutions: China Academy of Chinese Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, National Health and Family Planning Commission

Language: English

Topic: Ovarian function and disorders

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: National Natural Science Foundation of China