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

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.status: publishe

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study

PURPOSE: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi. METHOD: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted. From a total of 172 cases, 162 non-syndromic cases were recruited. For each case, one clinically normal newborn control was selected. RESULTS: NSCLP had an incidence of 1/1258 live births (0.8/1000). We found significant associations with a family history of cleft lip and palate (CLP) (x2family history = 11.5, p = 0.0007), maternal alcohol intake (OR = 19.3, 95% CI: 1.9-197.1), paternal alcohol during the periconceptional period and the first trimester of pregnancy (OR = 18.7, 95% CI: 3.9-89.2), maternal educational level lower than high school (OR = 9.5, 95% CI: 2.0-44.7), clay (Pemba) consumption during pregnancy (OR = 38.3, 95% CI: 9.3-157.0), the use of insecticides in the evening (OR = 130.3, 95% CI: 13.2-1286.9), indoor cooking with charcoal (Makala) (OR = 6.5, 95% CI: 1.22-34.5), and regular consumption of Kapolowe fish, supposedly contaminated with heavy metals (OR = 29.5, 95% CI: 7.4-116.7). CONCLUSION: Several environmental risk factors highly prevalent in Central Africa for facial clefting were found.status: publishe

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background. The clinical diagnosis of WHS was confirmed by array CGH, which revealed a terminal 4p16.3 deletion of 3.47 Mb, typically associated with a milder phenotype, contributing to the long survival of this child in a developing country