title: Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.
abstract: We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.
authors.affiliation: Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Breckpot
authors.affiliation: Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.affiliation: Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.affiliation: Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Moira
authors.initials: M
authors.lastname: Blyth
authors.affiliation: Centre de Génétique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
authors.forename: Afane
authors.initials: A
authors.lastname: Brahimi
authors.affiliation: Centre de Génétique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Duban-Bedu
authors.affiliation: Service Pédiatrie, Centre Hospitalier de Valenciennes, Valenciennes, France.
authors.forename: Odile
authors.initials: O
authors.lastname: Gozé
authors.affiliation: Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Firth
authors.affiliation: Department of Molecular Biology and Genetics, Acibadem University, Istanbul, Turkey.
authors.forename: Mustafa Cengiz
authors.initials: MC
authors.lastname: Yakicier
authors.affiliation: ENT Department, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Greet
authors.initials: G
authors.lastname: Hens
authors.affiliation: Neonatology Unit, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Maissa
authors.initials: M
authors.lastname: Rayyan
authors.affiliation: Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
authors.affiliation: Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Joris Robert
authors.initials: JR
authors.lastname: Vermeesch
authors.affiliation: Center for Human Genetics, University Hospitals Leuven and Department of Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D015870:Gene Expression; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D015534:Trans-Activators; D025521:Tumor Suppressor Proteins / Q000172:deficiency* / Q000235:genetics
chemical_list: C506524:MN1 protein, human; D015534:Trans-Activators; D025521:Tumor Suppressor Proteins