title: 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
abstract: We describe a patient presenting with developmental delay, patent foramen ovale, moderate short QT interval, and facial dysmorphism including left microtia, preauricular tag and pit, wide left corner of the mouth, and left hemifacial microsomia, fitting with the oculoauriculovertebral spectrum. We identified a de novo 2.3 Mb deletion in the 12p13.33 region that contains eighteen genes. Amongst those, the WNT5B gene stands out as a possible candidate. However, we did not find any mutation of this gene neither in our patient nor in a series of 53 OAVS patients. The CACNA1C gene is interrupted by the centromeric breakpoint of the deletion and its inactivation probably accounts for the short QT interval of the patient. We speculate that the phenotype of our patient may be explained by the combined effect of the loss of several of the genes contained in the deleted chromosomal segment and of the inactivation of CACNA1C.
authors.affiliation: Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France. caroline.rooryck-thambo@u-bordeaux2.fr
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Marianne
authors.initials: M
authors.lastname: Stef
authors.forename: Ingrid
authors.initials: I
authors.lastname: Burgelin
authors.forename: Delphine
authors.initials: D
authors.lastname: Simon
authors.forename: Noui
authors.initials: N
authors.lastname: Souakri
authors.forename: Jean-Benoît
authors.initials: JB
authors.lastname: Thambo
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C435831:WNT5B protein, human; D051153:Wnt Proteins