title: A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
abstract: An interstitial deletion of about 12Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Anna Pia
authors.initials: AP
authors.lastname: Verri
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Patricelli
authors.forename: Valeria
authors.initials: V
authors.lastname: Destefani
authors.forename: Ivana
authors.initials: I
authors.lastname: Ricca
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
authors.forename: Paola
authors.initials: P
authors.lastname: Maraschio
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C403049:CNTNAP2 protein, human; D018398:Homeodomain Proteins; D008565:Membrane Proteins; C506600:NOBOX protein, human; D009419:Nerve Tissue Proteins; D014157:Transcription Factors