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• W2973896265 abstract "Abstract Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investigated the genetic cause of a form of situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family, assuming that an autosomal recessive founder variant was responsible. This identified a single shared (2.34 Mb) region of autozygosity on chromosome 15q21.3 as the likely disease locus, in which we identified a single candidate biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)]. Genotyping of multiple family members identified randomisation of the laterality defects in other homozygous individuals, with all wild type or MNS1 c.407_410del heterozygous carriers being unaffected, consistent with an autosomal recessive mode of inheritance. This study identifies an MNS1 variant as a cause of laterality defects and male infertility in humans, mirroring findings in Mns1-deficient mice which also display male infertility and randomisation of left–right asymmetry of internal organs, confirming a crucial role for MNS1 in nodal cilia and sperm flagella formation and function." @default.
• W2973896265 created "2019-09-26" @default.
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• W2973896265 date "2019-09-18" @default.
• W2973896265 modified "2023-10-14" @default.
• W2973896265 title "MNS1 variant associated with situs inversus and male infertility" @default.
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• W2973896265 doi "https://doi.org/10.1038/s41431-019-0489-z" @default.
• W2973896265 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6906318" @default.
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