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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

التفاصيل البيبلوغرافية
العنوان: IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
المؤلفون: Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., Francois, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, Lionel, Addor, M. C., Drouin-Garraud, V., Mortier, G., Bouma, M., Dieux-Coeslier, A., Genevieve, D., Goldenberg, A., Gozu, A., Makrythanasis, P., McEntagart, U., Sanchez, A., Vilain, C., Vermeer, S., Connell, F., Verheij, J., Manouvrier, S., Pierquin, Geneviève, Odent, S., Holder-Espinasse, M., Vincent-Delorme, C., Gillerot, Y., Vanwijck, R., Bayet, B., Vikkula, M.
المصدر: Molecular Syndromology, 1 (2), 67-74 (2010)
بيانات النشر: Karger
سنة النشر: 2010
المجموعة: University of Liège: ORBi (Open Repository and Bibliography)
مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
الوصف: peer reviewed ; Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance.
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 1661-8769
1661-8777
العلاقة: urn:issn:1661-8769; urn:issn:1661-8777; https://orbi.uliege.be/handle/2268/82360Test; info:hdl:2268/82360; scopus-id:2-s2.0-79851516211; info:pmid:21045959
DOI: 10.1159/000313786
الإتاحة: https://doi.org/10.1159/000313786Test
https://orbi.uliege.be/handle/2268/82360Test
حقوق: restricted access ; http://purl.org/coar/access_right/c_16ecTest ; info:eu-repo/semantics/restrictedAccess
رقم الانضمام: edsbas.463B1563
قاعدة البيانات: BASE
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