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      Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

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          Abstract

          Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.

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          Author and article information

          Journal
          Clin. Dysmorphol.
          Clinical dysmorphology
          Ovid Technologies (Wolters Kluwer Health)
          1473-5717
          0962-8827
          Jan 2020
          : 29
          : 1
          Affiliations
          [1 ] Department of surgery, pediatric and maxillofacial surgery, University Clinic of Lubumbashi.
          [2 ] Department of Basic sciences, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo.
          [3 ] Center for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium.
          [4 ] Genetics Department, University Clinic of Kinshasa, University of Kinshasa, Kinshasa.
          [5 ] Gynecology Department.
          [6 ] Surgery Department, University Clinic of Lubumbashi, University of Lubumbashi, Lubumbashi, DR Congo.
          [7 ] Oral and Maxillofacial Department, University Hospital, UC Louvain, Brussels, Belgium.
          [8 ] Department of Human genetics, KU Leuven, Leuven, Belgium.
          Article
          10.1097/MCD.0000000000000272
          30946036
          63e5e19c-e016-481f-a150-2a6b53c2d207
          History

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