title: [Genetic origin of non-syndromic cleft lip and palate. TWIST, a candidate gene? Research protocol].
abstract: Non syndromic cleft lip and palate (CLP) is the most frequent human malformation. CLP is of complex inheritance and at least twenty contributing chromosomal regions have been identified by linkage studies. On the other hand, mutations in several genes such as TWIST and FGFR2 result in syndromic cranio-facial abnormalities of highly variable range. It is our hypothesis that some mutations at TWIST might contribute to CLP in absence of other dysmorphic features. Thus, DNA biopsies of patients with non syndromic CLP are collected and prepared to search for allelic variations or mutations at TWIST. This study should contribute to improve the classification of facial malformations relative to gene, to help to a better understanding of the inheritance pattern of this pathology, to help to genetic counselling for some cases aiming at the prevention of genetic disease. This project is based on a close cooperation between the Orthodontic Department, the Paediatric Surgery Department and the Center for Clinical Investigation (University Hospital in Strasbourg), in a joint project with an academic research laboratory, expert in molecular biology and genetics.
authors: CSERD, 1 place de l'Hôpital, Université Louis Pasteur et Hôpitaux Universitaires 67000 Strasbourg, France.
authors: William
authors: W
authors: Bacon
authors: Pascal
authors: P
authors: Tschill
authors: Bruno
authors: B
authors: Grollemund
authors: Olivier
authors: O
authors: Matern
authors: Renaud
authors: R
authors: Rinkenbach
authors: Paul
authors: P
authors: Sauvage
authors: Isabelle
authors: I
authors: Kaufmann
authors: Pascal
authors: P
authors: Bousquet
authors: Christian
authors: C
authors: Brandt
authors: Fabienne
authors: F
authors: Perrin-Schmitt
mesh_terms: D000818:Animals; D002971:Cleft Lip / Q000196:embryology / Q000235:genetics*; D002972:Cleft Palate / Q000196:embryology / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D018865:Dental Research / Q000331:legislation & jurisprudence / Q000458:organization & administration; D005602:France; D006801:Humans; D051379:Mice; D009154:Mutation; D009432:Neural Crest; D009687:Nuclear Proteins / Q000235:genetics*; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C067250:Twist1 protein, mouse