{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:45:58Z","timestamp":1790952358277,"version":"4.1.0"},"reference-count":57,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T00:00:00Z","timestamp":1591574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Craniosynostosis is one of the major genetic disorders affecting 1 in 2,100\u20132,500 live newborn children. Environmental and genetic factors are involved in the manifestation of this disease. The suggested genetic causes of craniosynostosis are pathogenic variants in <jats:italic>FGFR1<\/jats:italic>, <jats:italic>FGFR2<\/jats:italic>, <jats:italic>FGFR3<\/jats:italic>, and <jats:italic>TWIST1<\/jats:italic> genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In order to describe their major clinical characteristics and the presence of pathogenic variants, a sample of 36 Mexican patients with craniosynostosis diagnosed as: Crouzon (OMIM 123,500), Pfeiffer (OMIM 101,600), Apert (OMIM 101,200), Saethre\u2010Chotzen (OMIM 101,400), and Muenke (OMIM 602,849) was analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to craniosynostosis, most of the patients presented hypertelorism, midface hypoplasia, and abnormalities in hands and feet. To detect the pathogenic variants p.Pro252Arg <jats:italic>FGFR1<\/jats:italic> (OMIM 136,350), p.Ser252Trp, p.Pro253Arg <jats:italic>FGFR2<\/jats:italic> (OMIM 176,943), p.Pro250Arg, <jats:italic>FGFR3<\/jats:italic> (OMIM 134,934), and p.Gln119Pro <jats:italic>TWIST1<\/jats:italic> (OMIM 601,622), PCR amplification and restriction enzyme digestion were performed. Four and two patients with Apert presented the pathogenic variants p.Ser252Trp and p.Pro253Arg in <jats:italic>FGFR2<\/jats:italic>, respectively (with a frequency of 11.1% and 5.5%). The p.Pro250Arg pathogenic variant of <jats:italic>FGFR3<\/jats:italic> was found in a patient with Muenke (with a frequency of 2.8%). The above percentages were calculated with the total number of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The contribution of this work is discreet, since only 4 genes were analyzed and sample size is small. However, this strategy could be improved by sequencing the <jats:italic>FGFR1<\/jats:italic>, <jats:italic>FGFR2<\/jats:italic>, <jats:italic>FGFR3<\/jats:italic>, and <jats:italic>TWIST1<\/jats:italic> genes, to determine different pathogenic variants. On the other hand, it would be important to include other genes, such as <jats:italic>TCF12<\/jats:italic> (OMIM 600,480), <jats:italic>MSX2<\/jats:italic> (OMIM 123,101), <jats:italic>RAB23<\/jats:italic> (OMIM 606,144), and <jats:italic>EFNB1<\/jats:italic> (OMIM 300,035), to determine their participation in craniosynostosis in the Mexican population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1266","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T13:25:49Z","timestamp":1591622749000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis"],"prefix":"10.1002","volume":"8","author":[{"given":"Aurora","family":"Ibarra\u2010Arce","sequence":"first","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular e Histocompatibilidad Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Almaraz\u2010Salinas","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"Mart\u00ednez\u2010Rosas","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Ortiz de Z\u00e1rate\u2010Alarc\u00f3n","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Flores\u2010Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirza","family":"Romero\u2010Valdovinos","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular e Histocompatibilidad Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0492-1504","authenticated-orcid":false,"given":"Ang\u00e9lica","family":"Olivo\u2010D\u00edaz","sequence":"additional","affiliation":[{"name":"Departamento de Biolog\u00eda Molecular e Histocompatibilidad Hospital General \u201cDr. Manuel Gea Gonz\u00e1lez\u201d Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010012\u20101756\u20102"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2007.00884.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096\u2010174"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399403005751"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32208"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20258"},{"issue":"1","key":"e_1_2_10_8_1","first-page":"5","article-title":"Genetics of craniosynostosis: Review of the literature","volume":"2","author":"Ciurea A. 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