{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T21:11:28Z","timestamp":1793653888338,"version":"4.5.1"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>Context<\/jats:title><jats:p>Kallmann syndrome (KS) is a genetically heterogeneous developmental disorder that associates hypogonadotropic hypogonadism and anosmia. Various causative genes have been identified, but their respective involvement in different world regions is poorly documented.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to compare the prevalence of mutations in five routinely analyzed KS genes between Maghrebian and European patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Blood samples from 120 presumably unrelated Maghrebian patients were collected for DNA sequencing by the Sanger technique. The prevalence of the non-synonymous mutations in<jats:italic>KAL1<\/jats:italic>,<jats:italic>FGFR1<\/jats:italic>,<jats:italic>FGF8<\/jats:italic>,<jats:italic>PROKR2<\/jats:italic>, and<jats:italic>PROK2<\/jats:italic>was determined for each gene, and compared with those previously obtained from the analysis of 712 European patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diverse mutations in<jats:italic>PROKR2<\/jats:italic>, a gene involved both in monogenic recessive and digenic\/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test,<jats:italic>P<\/jats:italic>&lt;0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (<jats:italic>KAL1<\/jats:italic>,<jats:italic>PROK2<\/jats:italic>,<jats:italic>FGF8<\/jats:italic>, from 6.6 to 0.8%; Fisher's exact test,<jats:italic>P<\/jats:italic>&gt;0.4 for all comparisons) or at a lower frequency in Maghrebian patients (<jats:italic>FGFR1<\/jats:italic>, 5.0 vs 11.7%; Fisher's exact test,<jats:italic>P<\/jats:italic>&lt;0.05). Homozygosity resulting from consanguineous marriages was not sufficient to account for the greater prevalence of<jats:italic>PROKR2<\/jats:italic>mutations in the Maghrebian patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The great prevalence of<jats:italic>PROKR2<\/jats:italic>mutations in Maghrebian patients has practical consequences for molecular diagnosis of the disease and genetic counseling in the Maghrebian population.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-13-0419","type":"journal-article","created":{"date-parts":[[2013,9,13]],"date-time":"2013-09-13T05:57:55Z","timestamp":1379051875000},"page":"805-809","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":30,"title":["Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients"],"prefix":"10.1093","volume":"169","author":[{"given":"Julie","family":"Sarfati","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Fouveaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrystel","family":"Leroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Jeanpierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Hardelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Dod\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"2","key":"1_32550142","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1038\/ejhg.2008.206","volume":"17","author":"Dode","year":"2009","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"10","key":"2_38311236","doi-asserted-by":"publisher","first-page":"3668","DOI":"10.1172\/JCI43699","volume":"120","author":"Teixeira","year":"2010","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"4","key":"3_11079935","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1124\/mol.59.4.692","volume":"59","author":"Li","year":"2001","journal-title":"Molecular Pharmacology","ISSN":"https:\/\/id.crossref.org\/issn\/0026-895X","issn-type":"print"},{"issue":"22","key":"4_19554690","doi-asserted-by":"publisher","first-page":"19276","DOI":"10.1074\/jbc.M202139200","volume":"277","year":"2002","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"2-3","key":"5_17325607","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0167-4781(02)00546-8","volume":"1579","author":"Soga","year":"2002","journal-title":"Biochimica et Biophysica Acta. 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