Novel loss ‐of‐function mutation in MCM8 causes premature ovarian insufficiency

ConclusionWe identified a novel homozygous frameshift mutation in theMCM8 gene in two affected sisters with POI, and functional analysis revealed that this mutation is pathogenic. Our findings enrich theMCM8 mutation spectrum and might help clinicians to make a precise diagnosis, thereby allowing better family planning and genetic counseling.

Source: Molecular Genetics & Genomic Medicine - February 13, 2020 Category: Genetics & Stem Cells Authors: Ya ‐Xin Zhang, Wen‐Bin He, Wen‐Juan Xiao, Lan‐Lan Meng, Chen Tan, Juan Du, Guang‐Xiu Lu, Ge Lin, Yue‐Qiu Tan Tags: ORIGINAL ARTICLE Source Type: research