title: Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
abstract: Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that MN1 haploinsufficiency may be solely responsible for craniofacial anomalies and/or cleft palate. We report here the case of a 4-year-old boy presenting with global developmental delay and craniofacial anomalies including severe maxillary protrusion and retromicrognathia. Array-CGH detected a 2.4 Mb de novo deletion of chromosome 22q12.1 which did not encompass the MN1 gene thought to be the main pathological candidate in 22q12.1 deletions. This observation, combined with data from other patients from the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensemble Resources (DECIPHER), suggests that other gene(s) in the 22q12.1 region are likely involved in craniofacial anomalies and/or may contribute to the phenotypic variability observed in patients with MN1 deletion.
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Bosson
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Devillard
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.|Equipe "Genetics Epigenetics and Therapies of Infertility", Institut Albert Bonniot, INSERM U823, La Tronche, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Satre
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.
authors.forename: Klaus
authors.initials: K
authors.lastname: Dieterich
authors.affiliation: Université Grenoble-Alpes, Grenoble, France.|Equipe "Genetics Epigenetics and Therapies of Infertility", Institut Albert Bonniot, INSERM U823, La Tronche, France.|CHU de Grenoble, UF de Biochimie et Génétique Moléculaire, Grenoble F-38000, France.
authors.forename: Pierre F
authors.initials: PF
authors.lastname: Ray
authors.affiliation: Service de chirurgie plastique et maxillo-faciale, Pôle tête et cou et chirurgie réparatrice, CHU de Grenoble, Grenoble Cedex 9, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Morand
authors.affiliation: Service de Pédiatrie, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Dubois-Teklali
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Vieville
authors.affiliation: Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France.
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.|Inserm U1036, Biologie du cancer et de l'infection, iRTSV, CEA de Grenoble, 17 rue des Martyrs, Grenoble Cedex 9, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Brouillet
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Amblard
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.|UMR CNRS 5525 TIMC-IMAG, équipe DYCTIM, CHU de Grenoble, Grenoble, France.
authors.forename: Pierre-Simon
authors.initials: PS
authors.lastname: Jouk
authors.affiliation: Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.|Université Grenoble-Alpes, Grenoble, France.|Equipe "Genetics Epigenetics and Therapies of Infertility", Institut Albert Bonniot, INSERM U823, La Tronche, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Coutton
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D015534:Trans-Activators; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C506524:MN1 protein, human; D015534:Trans-Activators; D025521:Tumor Suppressor Proteins
keywords: MN1; NF2; craniofacial anomalies; deletion 22q12.1