title: A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
abstract: The increased use of array-CGH and SNP-arrays for genetic diagnosis has led to the identification of new microdeletion/microduplication syndromes and enabled genotype-phenotype correlations to be made. In this study, nine patients with 9q21 deletions were investigated and compared with four previously Decipher reported patients. Genotype-phenotype comparisons of 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip. The molecular investigation identified deletions with different breakpoints and of variable lengths, but the 750 kb smallest overlapping deleted region includes four genes. Among these genes, RORB is a strong candidate for a neurological phenotype. To our knowledge, this is the first published report of 9q21 microdeletions and our observations strongly suggest that these deletions are responsible for a new genetic syndrome characterised by mental retardation with speech delay, epilepsy, autistic behaviour and moderate facial dysmorphy.
authors.affiliation: Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Avenue Eugène Avinée, 59037 Lille, France. elise.labis@chru-lille.fr
authors.forename: Elise
authors.initials: E
authors.lastname: Boudry-Labis
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Demeer
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu-Dramard
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Plessis
authors.forename: Alice M
authors.initials: AM
authors.lastname: George
authors.forename: Juliet
authors.initials: J
authors.lastname: Taylor
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Adelheid
authors.initials: A
authors.lastname: Wiemer-Kruel
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Helen
authors.initials: H
authors.lastname: Firth
authors.forename: Ingrid
authors.initials: I
authors.lastname: Simonic
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
authors.forename: Henri
authors.initials: H
authors.lastname: Copin
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004577:Electron Probe Microanalysis; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D059785:Karyotype; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D046228:Microarray Analysis; D009363:Neoplasm Proteins / Q000235:genetics; D057095:Nuclear Receptor Subfamily 1, Group F, Member 2 / Q000235:genetics; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D043484:Proprotein Convertases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics; D050053:TRPM Cation Channels / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D057095:Nuclear Receptor Subfamily 1, Group F, Member 2; C118408:OSTF1 protein, human; C509845:PRUNE2 protein, human; D011506:Proteins; C539740:RORB protein, human; D050053:TRPM Cation Channels; C459082:TRPM6 protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor); C487431:NMRK1 protein, human; C080654:PCSK6 protein, human; D043484:Proprotein Convertases; D012697:Serine Endopeptidases