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Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Abstract：

PURPOSE:This study sought to identify a disease-related gene in a consanguineous Chinese family in which there were two premature ovarian insufficiency (POI) sisters. METHOD:We used whole-exome sequencing and Sanger sequencing to identify the disease-causing gene. Results were verified using an assay of mutant protein and in silico analyses. RESULT:We identified a novel missense mutation (NM_000303: c.556G>A, p.Gly186Arg) in the PMM2 gene. The two sisters suffer from premature ovarian insufficiency (POI) only and have no other symptoms of congenital disorder of glycosylation type-1a (CDG-Ia). We found that the enzymic activity of the mutant PMM2 protein was reduced by 55.21% (p < 0.05) when compared with wild type, and many in silico tools suggested the mutation is disease-related. CONCLUSION:This particular gene modification results in changes in activity of phosphomannomutase modification, which could lead to PMM2-CDG-Ia with an uncommon phenotype.

journal_name

J Assist Reprod Genet

journal_title

Journal of assisted reproduction and genetics

authors

Peng T,Lv C,Tan H,Huang J,He H,Wang Y,Zeng M,Yi D,Li J,Deng H,Shi X,Xiao H

doi

10.1007/s10815-019-01675-8

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

443-450

issue

2

eissn

1058-0468

issn

1573-7330

pii

10.1007/s10815-019-01675-8

journal_volume

37

pub_type

杂志文章

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