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Here, in a patient from a consanguineous family, we identified a homozygous mutation (c.<jats:styled-content style=\"fixed-case\">G4343A<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">R1448Q<\/jats:styled-content>) in <jats:italic><jats:styled-content style=\"fixed-case\">SPAG17<\/jats:styled-content><\/jats:italic> by whole\u2010exome sequencing. The encoded protein, <jats:styled-content style=\"fixed-case\">SPAG17<\/jats:styled-content>, localizes to the axonemal central apparatus and is considered essential for flagellar waveform. In silico analysis revealed that <jats:styled-content style=\"fixed-case\">R1448Q<\/jats:styled-content> is a potential pathogenic mutation. Immunostaining and western blot assays showed that the <jats:styled-content style=\"fixed-case\">R1448Q<\/jats:styled-content> mutation may exert a negative effect on the steady\u2010state of the <jats:styled-content style=\"fixed-case\">SPAG17<\/jats:styled-content> protein. Therefore, <jats:italic><jats:styled-content style=\"fixed-case\">SPAG17<\/jats:styled-content><\/jats:italic> may be a new pathogenic gene causing <jats:styled-content style=\"fixed-case\">AZS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.13059","type":"journal-article","created":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T09:56:40Z","timestamp":1495792600000},"page":"345-349","source":"Crossref","is-referenced-by-count":47,"title":["A familial study of twins with severe asthenozoospermia identified a homozygous <i><scp>SPAG17<\/scp><\/i> mutation by whole\u2010exome sequencing"],"prefix":"10.1111","volume":"93","author":[{"given":"X.","family":"Xu","sequence":"first","affiliation":[{"name":"School of Pharmaceutical Sciences Xiamen University  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.\u2010W.","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.\u2010B.","family":"Mei","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.\u2010Y.","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.\u2010p.","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen 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