A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

doi:10.1007/s10815-017-0900-z

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Article

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

Journal of assisted reproduction and genetics - 1 May 2017

Okutman Ozlem, Muller Jean, Skory Valerie, Garnier Jean Marie, Gaucherot Angeline, Baert Yoni, Lamour Valérie, Serdarogullari Munevver, Gultomruk Meral, Röpke Albrecht, Kliesch Sabine, Herbepin Viviana, Aknin Isabelle, Benkhalifa Moncef, Teletin Marius, Bakircioglu Emre, Goossens Ellen, Charlet-Berguerand Nicolas, Bahceci Mustafa, Tüttelmann Frank, Viville STéphane

Abstract excerpt

PURPOSE: The purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases. METHODS: We recruited a consanguineous Turkish family comprising nine siblings with male triplets; two of the triplets were infertile as well as one younger infertile brother. Whole exome sequencing (WES) performed on two azoospermic brothers identified a mutation in...

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Identifiers

PMID: 28401488
DOI: 10.1007/s10815-017-0900-z
PMCID: PMC5427651

Genes

MAGEB4

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