title: Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
abstract: Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and perception deafness were also described. Genotyping of the parents showed that the parent from which the abnormality was inherited carried the H2 inversion polymorphism, confirming that the H2 allele is necessary, but not sufficient to generate the 17q21.31 microdeletion. Previously reported molecular analyses of patients with 17q21.31 microdeletion syndrome defined a 493 kb genomic fragment that was deleted in most patients after taking into account frequent copy number variations in normal controls, but the deleted interval was significantly smaller (205 kb) in one of our patients, encompassing only the MAPT, STH and KIAA1267 genes. As this patient presents the classical phenotype of 17q21.31 syndrome, these data make it possible to define a new minimal critical region of 160.8 kb, strengthening the evidence for involvement of the MAPT gene in this syndrome.
authors.affiliation: Laboratoire de Génétique Moléculaire, CHU Pontchaillou, Rennes, France. christele.dubourg@chu-rennes.fr
authors.forename: Christèle
authors.initials: C
authors.lastname: Dubourg
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Chantal
authors.initials: C
authors.lastname: Missirian
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jaillard
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
authors.forename: Emilie
authors.initials: E
authors.lastname: Landais
authors.forename: Odile
authors.initials: O
authors.lastname: Boute
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Dominique
authors.initials: D
authors.lastname: Martin-Coignard
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
authors.forename: Isabelle
authors.initials: I
authors.lastname: Mortemousque
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Duban-Bedu
authors.forename: Sèverine
authors.initials: S
authors.lastname: Drunat
authors.forename: Mylène
authors.initials: M
authors.lastname: Beri
authors.forename: Jean
authors.initials: J
authors.lastname: Mosser
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Véronique
authors.initials: V
authors.lastname: David
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005602:France; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins