作者
K Cryns, E Orzan, Alessandra Murgia, PLM Huygen, F Moreno, I Del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, RA Cucci, E Leonardi, RL Snoeckx, PJ Govaerts, PH Van de Heyning, CM Van de Heyning, RJH Smith, G Van Camp
发表日期
2004/3/1
期刊
Journal of medical genetics
卷号
41
期号
3
页码范围
147-154
出版商
BMJ Publishing Group Ltd
简介
Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test.
Objective: To assess a possible genotype-phenotype correlation for GJB2.
Design: Retrospective analysis of audiometric data from people with hearing impairment, segregating two GJB2 mutations.
Subjects: Two hundred and seventy seven unrelated patients with hearing impairment who were seen at the ENT departments of local and university hospitals from Italy, Belgium, Spain, and the United States, and who harboured bi-allelic GJB2 mutations.
Results: We found that 35delG homozygotes have significantly more hearing impairment, compared with 35delG/non-35delG compound heterozygotes. People with two non-35delG mutations have even less hearing …
引用总数
学术搜索中的文章
K Cryns, E Orzan, A Murgia, PLM Huygen, F Moreno… - Journal of medical genetics, 2004