{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:49:28Z","timestamp":1790768968523,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T00:00:00Z","timestamp":1563321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["MAS\u2010FLAGELLA 2014"],"award-info":[{"award-number":["MAS\u2010FLAGELLA 2014"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a severe male infertility phenotype which has so far been formally linked to the presence of biallelic mutations in nine genes mainly coding for axonemal proteins overexpressed in the sperm flagellum. Homozygous mutations in\n                    <jats:italic>QRICH2<\/jats:italic>\n                    , a gene coding for a protein known to be required for stabilizing proteins involved in sperm flagellum biogenesis, have recently been identified in MMAF patients from two Chinese consanguineous families. Here, in order to better assess the contribution of\n                    <jats:italic>QRICH2<\/jats:italic>\n                    in the etiology of the MMAF phenotype, we analyzed all\n                    <jats:italic>QRICH2<\/jats:italic>\n                    variants from whole exome sequencing data of a cohort of 167 MMAF\u2010affected subjects originating from North Africa, Iran, and Europe. We identified a total of 14 potentially deleterious variants in 18 unrelated individuals. Two unrelated subjects, representing 1% of the cohort, carried a homozygous loss\u2010of\u2010function variant: c.3501C&gt;G [p.Tyr1167Ter] and c.4614C&gt;G [p.Tyr1538Ter], thus confirming the implication of\n                    <jats:italic>QRICH2<\/jats:italic>\n                    in the MMAF phenotype and human male infertility. Sixteen MMAF patients (9.6%) carried a heterozygous\n                    <jats:italic>QRICH2<\/jats:italic>\n                    potentially deleterious variant. This rate was comparable to what was observed in a control group (15.5%) suggesting that the presence of\n                    <jats:italic>QRICH2<\/jats:italic>\n                    heterozygous variants is not associated with MMAF syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.13604","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T01:34:05Z","timestamp":1562808845000},"page":"394-401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous\n                    <i>QRICH2<\/i>\n                    mutations"],"prefix":"10.1111","volume":"96","author":[{"given":"Zine\u2010Eddine","family":"Kherraf","sequence":"first","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM GI\u2010DPI CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Cazin","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM GI\u2010DPI CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8873-8098","authenticated-orcid":false,"given":"Charles","family":"Coutton","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM de G\u00e9n\u00e9tique Chromosomique CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Amiri\u2010Yekta","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM GI\u2010DPI CHU Grenoble Alpes  Grenoble France"},{"name":"Department of Genetics, Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine, ACECR  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Martinez","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM de G\u00e9n\u00e9tique Chromosomique CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Boguenet","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selima","family":"Fourati Ben Mustapha","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Kharouf","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Gourabi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine, ACECR  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyedeh Hanieh","family":"Hosseini","sequence":"additional","affiliation":[{"name":"Department of Andrology, Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine, ACECR  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Daneshipour","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine, ACECR  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aminata","family":"Tour\u00e9","sequence":"additional","affiliation":[{"name":"INSERM U1016 Institut Cochin  Paris France"},{"name":"UMR8104 Centre National de la Recherche Scientifique  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Thierry\u2010Mieg","sequence":"additional","affiliation":[{"name":"CNRS, TIMC\u2010IMAG Universit\u00e9 Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoudha","family":"Zouari","sequence":"additional","affiliation":[{"name":"Polyclinique les Jasmins Centre d'Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Centre Urbain Nord  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Arnoult","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1544-7449","authenticated-orcid":false,"given":"Pierre F.","family":"Ray","sequence":"additional","affiliation":[{"name":"INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility Universit\u00e9 Grenoble Alpes  Grenoble France"},{"name":"UM GI\u2010DPI CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmv020"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.017"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy034"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.12.013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02792-7"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/1933719117749756"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.012"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105486"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.007"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.014"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.013"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0520-1"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dey264"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2018.09.006"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.02.020"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-08182-x"},{"key":"e_1_2_8_18_1","first-page":"12","article-title":"Disorders of spermatogenesis","volume":"30","author":"T\u00fcttelmann F","year":"2018","journal-title":"Med Genet"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12900"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12905"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12610-019-0083-9"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23110"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez022"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13604","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13604","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13604","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T13:50:55Z","timestamp":1694181055000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,17]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/cge.13604"],"URL":"https:\/\/doi.org\/10.1111\/cge.13604","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13604\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13604\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13604\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13604\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13604\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13604\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,17]]},"assertion":[{"value":"2019-05-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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