TY - JOUR
T1 - Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population
AU - Taniguchi, Mirei
AU - Matsuo, Hirotaka
AU - Shimizu, Seiko
AU - Nakayama, Akiyoshi
AU - Suzuki, Koji
AU - Hamajima, Nobuyuki
AU - Shinomiya, Nariyoshi
AU - Nishio, Shinya
AU - Kosugi, Shinji
AU - Usami, Shin Ichi
AU - Ito, Juichi
AU - Kitajiri, Shin Ichiro
N1 - Publisher Copyright:
© 2015 The Japan Society of Human Genetics All rights reserved.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - Hearing impairment is one of the most common sensory disorders that affect ∼1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. However, there have been few reports specific to the Japanese population. GJB2 mutations are reported to be the most frequent cause of hereditary hearing loss, and the mutation spectrum and frequency of GJB2 mutations were reported to vary among different ethnic groups. In this study, we investigated the carrier frequency of GJB2 mutations and the mutation spectrum in 509 individuals randomly selected from the general Japanese population. We show that the carrier frequencies of the two most common pathogenic mutations are 1.57% (8/509) for c.235delC and 1.77% (9/509) for p.Val37Ile. In addition to these mutations, we found two pathogenic variants (p.[Gly45Glu;Tyr136∗] and p.Arg143Trp), and the total carrier frequency was estimated to be around 3.73% (19/509). We also detected six unclassified variants, including two novel variants (p.Cys60Tyr and p.Phe106Leu), with the former predicted to be pathogenic. These findings will provide indispensable information for genetic counseling in the Japanese population.
AB - Hearing impairment is one of the most common sensory disorders that affect ∼1 in 1000 children, and half of them are considered to be hereditary. Information about the carrier frequencies of mutations that underlie autosomal recessive disorders is indispensable for accurate genetic counseling to predict the probability of patients' children's disease. However, there have been few reports specific to the Japanese population. GJB2 mutations are reported to be the most frequent cause of hereditary hearing loss, and the mutation spectrum and frequency of GJB2 mutations were reported to vary among different ethnic groups. In this study, we investigated the carrier frequency of GJB2 mutations and the mutation spectrum in 509 individuals randomly selected from the general Japanese population. We show that the carrier frequencies of the two most common pathogenic mutations are 1.57% (8/509) for c.235delC and 1.77% (9/509) for p.Val37Ile. In addition to these mutations, we found two pathogenic variants (p.[Gly45Glu;Tyr136∗] and p.Arg143Trp), and the total carrier frequency was estimated to be around 3.73% (19/509). We also detected six unclassified variants, including two novel variants (p.Cys60Tyr and p.Phe106Leu), with the former predicted to be pathogenic. These findings will provide indispensable information for genetic counseling in the Japanese population.
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U2 - 10.1038/jhg.2015.82
DO - 10.1038/jhg.2015.82
M3 - Article
C2 - 26178431
AN - SCOPUS:84945249950
VL - 60
SP - 613
EP - 617
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 10
ER -