{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:23:00Z","timestamp":1789172580699,"version":"build-2803163510"},"reference-count":59,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T00:00:00Z","timestamp":1558569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011271","name":"FP7 Coordination of Non-Community Research Programmes","doi-asserted-by":"publisher","award":["295097"],"award-info":[{"award-number":["295097"]}],"id":[{"id":"10.13039\/100011271","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009122","name":"Ministry of Higher Education and Scientific Research","doi-asserted-by":"publisher","award":["LR16IPT05"],"award-info":[{"award-number":["LR16IPT05"]}],"id":[{"id":"10.13039\/100009122","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co\u2010occurrence of two or more diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report here on a consanguineous Libyan family whose child was initially diagnosed as presenting Fanconi anemia (FA) with uncommon skeletal deformities. The chromosome breakage test has been performed using mitomycin C (MMC) while molecular analysis was performed by a combined approach of linkage analysis and whole exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cytogenetic analyses showed that the karyotype of the female patient is 46,XY suggesting the diagnosis of a disorder of sex development (DSD). By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in <jats:italic>FANCJ<\/jats:italic> (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in <jats:italic>EFCAB6<\/jats:italic> (Gene\u00a0#64800) gene responsible for DSD. In addition, we have incidentally discovered a novel mutation p.[Gly1372Arg];[Gly1372Arg] in the <jats:italic>ERCC6<\/jats:italic> (<jats:italic>CSB<\/jats:italic>) (OMIM #609413) gene responsible for COFS that might explain the atypical severe skeletal deformities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The co\u2010occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.694","type":"journal-article","created":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T04:14:28Z","timestamp":1558671268000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro\u2010oculo\u2010facio\u2010skeletal syndrome"],"prefix":"10.1002","volume":"7","author":[{"given":"Abir","family":"Ben Haj Ali","sequence":"first","affiliation":[{"name":"Laboratory of Histology and Cytogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"},{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlem","family":"Amouri","sequence":"additional","affiliation":[{"name":"Laboratory of Histology and Cytogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"},{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa","family":"Sayeb","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saloua","family":"Makni","sequence":"additional","affiliation":[{"name":"Children's Hospital of Tunis Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wajih","family":"Hammami","sequence":"additional","affiliation":[{"name":"Laboratory of Histology and Cytogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"},{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chokri","family":"Naouali","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Dallali","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Romdhane","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Bashamboo","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics Institut Pasteur de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"McElreavey","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics Institut Pasteur de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olfa","family":"Messaoud","sequence":"additional","affiliation":[{"name":"Laboratory of Biomedical Genomics and Oncogenetics Institut Pasteur de Tunis, University Tunis El Manar Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/fampra\/4.1.19"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.55"},{"key":"e_1_2_8_4_1","first-page":"8.7.1","article-title":"Diagnosis of Fanconi anemia by diepoxybutane analysis","author":"Auerbach A. 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