Chromosome imbalances in syndromic hearing loss |
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| Authors: | ALPM Catelani ACV Krepischi CA Kim F Kok PA Otto MTBM Auricchio JF Mazzeu DT Uehara SS Costa J Knijnenburg A Tabith Jr AM Vianna-Morgante RC Mingroni-Netto C Rosenberg |
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| Affiliation: | Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil;, Fleury Medicine and Heath, São Paulo, Brazil;, A.C. Camargo Hospital, São Paulo, Brazil;, Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, University of São Paulo, Brazil;, Department of Neurology, Hospital das Clínicas, University of São Paulo, Brazil;, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands;, and Division of Education and Rehabilitation of Communication Disorders (DERDIC) of the Catholic University of São Paulo (PUC-São Paulo), Brazil |
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| 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. |
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| Keywords: | array-CGH chromosome imbalance chromosome rearrangement hearing loss |
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