Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

Demain, Leigh A M; Metcalfe, Kay; Boetje, Eline; Clayton, Peter; Martindale, Elizabeth A; Busby, Gail; O'Keefe, Raymond T; Newman, William G

Demain, Leigh A M; Metcalfe, Kay; Boetje, Eline; Clayton, Peter; Martindale, Elizabeth A; Busby, Gail; O'Keefe, Raymond T; Newman, William G.

Afiliação

Demain LAM; Evolution, Infection and Genomics, 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.
Metcalfe K; Evolution, Infection and Genomics, 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.
Boetje E; Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester, UK; Hanze University of Applied Sciences Groningen, the Netherlands.
Clayton P; Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust Manchester, UK; Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester Manchester, UK.
Martindale EA; Department of Obstetrics and Gynaecology, Royal Blackburn Hospital, Blackburn, UK.
Busby G; Gynaecology Department, St Mary's Hospital, Manchester University NHS Foundation Trust Manchester, UK.
O'Keefe RT; Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester, UK.
Newman WG; Evolution, Infection and Genomics, 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.

Reprod Biomed Online ; 45(4): 727-729, 2022 10.

Article em En | MEDLINE | ID: mdl-35781182

RESUMO

RESEARCH QUESTION: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea? DESIGN: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. RESULTS: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified. CONCLUSIONS: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.

Assuntos

Proteína Morfogenética Óssea 15/genética; Insuficiência Ovariana Primária; Adolescente; Feminino; Homozigoto; Humanos; Mutação de Sentido Incorreto; Insuficiência Ovariana Primária/genética

Palavras-chave

BMP15; Genomic; Homozygous; Primary ovarian insufficiency; Rare disease

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Proteína Morfogenética Óssea 15 Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Reprod Biomed Online Assunto da revista: MEDICINA REPRODUTIVA Ano de publicação: 2022 Tipo de documento: Article

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