Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Mirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, Akiyoshi Nakayama, Koji Suzuki, Nobuyuki Hamajima, Nariyoshi Shinomiya, Shinya Nishio, Shinji Kosugi, Shin Ichi Usami, Juichi Ito, Shin Ichiro Kitajiri

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)613-617
Number of pages5
JournalJournal of Human Genetics
Volume60
Issue number10
DOIs
Publication statusPublished - 01-10-2015

Fingerprint

Mutation Rate
Hearing Loss
Mutation
Population
Genetic Counseling
Sensation Disorders
Ethnic Groups

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Taniguchi, M., Matsuo, H., Shimizu, S., Nakayama, A., Suzuki, K., Hamajima, N., ... Kitajiri, S. I. (2015). Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. Journal of Human Genetics, 60(10), 613-617. https://doi.org/10.1038/jhg.2015.82
Taniguchi, Mirei ; Matsuo, Hirotaka ; Shimizu, Seiko ; Nakayama, Akiyoshi ; Suzuki, Koji ; Hamajima, Nobuyuki ; Shinomiya, Nariyoshi ; Nishio, Shinya ; Kosugi, Shinji ; Usami, Shin Ichi ; Ito, Juichi ; Kitajiri, Shin Ichiro. / Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. In: Journal of Human Genetics. 2015 ; Vol. 60, No. 10. pp. 613-617.
@article{896bbe84378c421997ef4aca026408b4,
title = "Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population",
abstract = "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.",
author = "Mirei Taniguchi and Hirotaka Matsuo and Seiko Shimizu and Akiyoshi Nakayama and Koji Suzuki and Nobuyuki Hamajima and Nariyoshi Shinomiya and Shinya Nishio and Shinji Kosugi and Usami, {Shin Ichi} and Juichi Ito and Kitajiri, {Shin Ichiro}",
year = "2015",
month = "10",
day = "1",
doi = "10.1038/jhg.2015.82",
language = "English",
volume = "60",
pages = "613--617",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "10",

}

Taniguchi, M, Matsuo, H, Shimizu, S, Nakayama, A, Suzuki, K, Hamajima, N, Shinomiya, N, Nishio, S, Kosugi, S, Usami, SI, Ito, J & Kitajiri, SI 2015, 'Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population', Journal of Human Genetics, vol. 60, no. 10, pp. 613-617. https://doi.org/10.1038/jhg.2015.82

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. / Taniguchi, Mirei; Matsuo, Hirotaka; Shimizu, Seiko; Nakayama, Akiyoshi; Suzuki, Koji; Hamajima, Nobuyuki; Shinomiya, Nariyoshi; Nishio, Shinya; Kosugi, Shinji; Usami, Shin Ichi; Ito, Juichi; Kitajiri, Shin Ichiro.

In: Journal of Human Genetics, Vol. 60, No. 10, 01.10.2015, p. 613-617.

Research output: Contribution to journalArticle

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

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.

UR - http://www.scopus.com/inward/record.url?scp=84945249950&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84945249950&partnerID=8YFLogxK

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 -