title: Chromosome imbalances in syndromic hearing loss.
abstract: The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage-sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2-q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but its role as a predisposition gene remains a possibility. Our results show that syndromic deafness is frequently associated with chromosome microimbalances (14-27%), and the use of aCGH for defining disease etiology is recommended.
authors.affiliation: Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil.
authors.forename: A L P M
authors.initials: AL
authors.lastname: Catelani
authors.forename: A C V
authors.initials: AC
authors.lastname: Krepischi
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: F
authors.initials: F
authors.lastname: Kok
authors.forename: P A
authors.initials: PA
authors.lastname: Otto
authors.forename: M T B M
authors.initials: MT
authors.lastname: Auricchio
authors.forename: J F
authors.initials: JF
authors.lastname: Mazzeu
authors.forename: D T
authors.initials: DT
authors.lastname: Uehara
authors.forename: S S
authors.initials: SS
authors.lastname: Costa
authors.forename: J
authors.initials: J
authors.lastname: Knijnenburg
authors.forename: A
authors.initials: A
authors.lastname: Tabith
authors.forename: A M
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: R C
authors.initials: RC
authors.lastname: Mingroni-Netto
authors.forename: C
authors.initials: C
authors.lastname: Rosenberg
mesh_terms: D002648:Child; D002675:Child, Preschool; D043171:Chromosomal Instability / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D018628:Gene Dosage; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome