Article
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS genetics - 1 Aug 2018
Ta-Shma Asaf, Hjeij Rim, Perles Zeev, Dougherty Gerard W, Abu Zahira Ibrahim, Letteboer Stef J F, Antony Dinu, Darwish Alaa, Mans Dorus A, Spittler Sabrina, Edelbusch Christine, Cindrić Sandra, Nöthe-Menchen Tabea, Olbrich Heike, Stuhlmann Friederike, Aprea Isabella, Pennekamp Petra, Loges Niki T, Breuer Oded, Shaag Avraham, Rein Azaria J J T, Gulec Elif Yilmaz, Gezdirici Alper, Abitbul Revital, Elias Nael, Amirav Israel, Schmidts Miriam, Roepman Ronald, Elpeleg Orly, Omran Heymut
Abstract excerpt
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in five individuals from four consanguineous families: 1) a homozygous nonsense mutation p.Arg242*...
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