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

Laurence Desmyter 1 Michella Ghassibé 1 Nicole Revencu 1, 2 Odile Boute 3 M. Lees 4 G. François 5 Christine Verellen-Dumoulin 6 Y. Sznajer 7 Anne Moncla 8 Hervé Benateau 9 K. Claes 10 K. Devriendt 11 Michèle Mathieu 12 L. Van Maldergem 13 M.-C. Addor 14 Valérie Drouin-Garraud 15 G. Mortier 10, 16 M. Bouma 17 Anne Dieux-Coeslier 18 David Genevieve 19 Alice Goldenberg 15 A. Gozu 20 P. Makrythanasis 21 U. Mcentagart 22 A. Sanchez 23 Catheline Vilain 24 S. Vermeer 25 F. Connell 22 J. Verheij 17 Sylvie Manouvrier-Hanu 26 G. Pierquin 13 Sylvie Odent 27 Muriel Holder-Espinasse 3 Catherine Vincent-Delorme 28 Y. Gillerot 2 R. Vanwijck 5 B. Bayet 5 Miikka Vikkula 1, *
Abstract : 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.
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Mol Syndromol, 2010, 1 (2), pp.67-74. 〈10.1159/000313786〉
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Laurence Desmyter, Michella Ghassibé, Nicole Revencu, Odile Boute, M. Lees, et al.. IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.. Mol Syndromol, 2010, 1 (2), pp.67-74. 〈10.1159/000313786〉. 〈inserm-00538240〉

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