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Chromosome imbalances in syndromic hearing loss
Author(s) -
Catelani ALPM,
Krepischi ACV,
Kim CA,
Kok F,
Otto PA,
Auricchio MTBM,
Mazzeu JF,
Uehara DT,
Costa SS,
Knijnenburg J,
Tabith A,
ViannaMorgante AM,
MingroniNetto RC,
Rosenberg C
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01276.x
Subject(s) - hearing loss , comparative genomic hybridization , etiology , genetics , chromosome , biology , disease , medicine , gene , audiology , pathology
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.