Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.

Amenorrhea / genetics Cell Cycle Proteins / genetics Codon, Nonsense / genetics Female Gene Deletion High-Throughput Nucleotide Sequencing Humans Karyotyping Mutation Pedigree Primary Ovarian Insufficiency / genetics Puberty / genetics Young Adult
Genomic Primary ovarian insufficiency Rare disease STAG3

Journal

Reproductive biomedicine online
ISSN: 1472-6491
Titre abrégé: Reprod Biomed Online
Pays: Netherlands
ID NLM: 101122473

Informations de publication

Date de publication:
Nov 2021
Historique:
received: 23 04 2021
revised: 24 06 2021
accepted: 06 07 2021
pubmed: 10 9 2021
medline: 26 2 2022
entrez: 9 9 2021
Statut: ppublish

Résumé

Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21-year-old woman with primary amenorrhoea? A karyotype and genetic testing for Fragile X syndrome was undertaken. A next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.

Identifiants

DOI: 10.1016/j.rbmo.2021.07.003 PMID: 34497033
pubmed: 34497033
pii: S1472-6483(21)00343-6
doi: 10.1016/j.rbmo.2021.07.003
pii:
doi:

Substances chimiques

Cell Cycle Proteins 0
Codon, Nonsense 0
STAG3 protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

899-902

Informations de copyright

Copyright © 2021 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Auteurs

Leigh A M Demain (LAM)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.

Eline Boetje (E)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Hanze University of Applied Sciences, Groningen, the Netherlands.

Jonathan J Edgerley (JJ)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Emma Miles (E)

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.

Cheryl T Fitzgerald (CT)

Reproductive Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

Gail Busby (G)

Gynaecology Department, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

Glenda M Beaman (GM)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.

James O'Sullivan (J)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.

Raymond T O'Keefe (RT)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

William G Newman (WG)

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Electronic address: william.newman@manchester.ac.uk.

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles de la menstruation › Aménorrhée › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cycle cellulaire › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Codon non-sens › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse cytogénétique › Caryotypage › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Insuffisance ovarienne primitive › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Développement sexuel › Puberté › Biallelic loss of function variants in STAG3...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Biallelic loss of function variants in STAG3...