Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency

Molecular Genetics and Genomics : MGG
Abdelkader HeddarMicheline Misrahi

Abstract

Primary ovarian insufficiency (POI) affects ~ 1-3, 7% of women under forty and is a public health problem. Most causes are unknown, but an increasing number of genetic causes have been identified recently. The identification of such causes is essential for genetic and therapeutic counseling in patients and their families. We performed whole exome sequencing in two Caucasian sisters displaying non syndromic POI and their unaffected mother. We identified two novel pathogenic variants in STAG3 encoding a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion: a c.3052delC truncating mutation in exon 28 yielding p.Arg1018Aspfs*14, and a c.659T > G substitution in exon seven yielding p.Leu220Arg. Leu220, highly conserved throughout species, belongs to the STAG domain conserved with other mitotic subunits of the cohesion complex STAG1 and 2. In silico analysis reveals that this substitution markedly impacts the structure of this domain. The truncation removes the last 206 C-terminal residues, not conserved in STAG1 and 2, supporting an important specific role in STAG3, especially meiosis. This is the first occurrence of STAG3 mutations in a Caucasian family. Very little is known about the functi...Continue Reading

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Citations

Apr 4, 2020·The Journal of Clinical Endocrinology and Metabolism·Abdelkader HeddarMicheline Misrahi
Sep 9, 2020·Climacteric : the Journal of the International Menopause Society·N PanayW Wolfman
Jul 8, 2020·Molecular Human Reproduction·Sylvie JaillardAndrew H Sinclair
May 10, 2020·Biomedical Journal·Reiner A Veitia
Jan 13, 2021·Climacteric : the Journal of the International Menopause Society·I LambrinoudakiN Panay
Jan 17, 2021·Maturitas·Irene LambrinoudakiNick Panay
Feb 12, 2021·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Hideki InnanReiner A Veitia
Mar 26, 2021·Frontiers in Cell and Developmental Biology·Chengzi HuangYingying Qin
Apr 4, 2021·International Journal of Molecular Sciences·Francesca CioppiCsilla Krausz
May 28, 2021·Frontiers in Cell and Developmental Biology·Seung Joo ChonMee-Sup Yoon
Aug 20, 2021·Frontiers in Cell and Developmental Biology·Rachel BeverleyMiguel Angel Brieño-Enríquez

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

IntegraGen
Illumina
MKL
SIRIUS
SeaView
EMBOSS
CADD
MODELLER
Polyphen
SIFT

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