Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

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Hearing loss in enlarged vestibular aqueduct and incomplete partition type II

American Journal of Otolaryngology ◽

10.1016/j.amjoto.2017.06.010 ◽

2017 ◽

Vol 38 (6) ◽

pp. 692-697 ◽

Cited By ~ 6

Author(s):

Emily Ahadizadeh ◽

Mustafa Ascha ◽

Nauman Manzoor ◽

Amit Gupta ◽

Maroun Semaan ◽

...

Keyword(s):

Hearing Loss ◽

Type Ii ◽

Enlarged Vestibular Aqueduct ◽

Vestibular Aqueduct ◽

Incomplete Partition

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The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2019.05.036 ◽

2019 ◽

Vol 124 ◽

pp. 157-160 ◽

Cited By ~ 3

Author(s):

Sonia Talbi ◽

Crystel Bonnet ◽

Farid Boudjenah ◽

Mohammed Tahar Mansouri ◽

Christine Petit ◽

...

Keyword(s):

Hearing Loss ◽

Gene Mutations ◽

Gjb2 Gene ◽

Nonsyndromic Hearing Loss

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Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

Gene ◽

10.1016/j.gene.2015.07.050 ◽

2015 ◽

Vol 573 (2) ◽

pp. 239-245 ◽

Cited By ~ 14

Author(s):

Bidisha Adhikary ◽

Sudakshina Ghosh ◽

Silpita Paul ◽

Biswabandhu Bankura ◽

Arup Kumar Pattanayak ◽

...

Keyword(s):

Hearing Loss ◽

Gene Mutations ◽

Nonsyndromic Hearing Loss ◽

Slc26a4 Gene

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Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss

International Journal of Molecular Medicine ◽

10.3892/ijmm_00000005 ◽

1998 ◽

Author(s):

Un-Kyung Kim

Keyword(s):

Hearing Loss ◽

Molecular Analysis ◽

Mitochondrial Gene ◽

Gene Mutations ◽

Nonsyndromic Hearing Loss ◽

Korean Patients

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Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489415575059 ◽

2015 ◽

Vol 124 (1_suppl) ◽

pp. 49S-60S ◽

Cited By ~ 46

Author(s):

Shin-ya Nishio ◽

Shin-ichi Usami

Keyword(s):

Hearing Loss ◽

Target Genes ◽

Gene Mutations ◽

Japanese Patients ◽

Nonsyndromic Hearing Loss ◽

Causative Gene ◽

Data Set ◽

Deafness Gene ◽

Monogenic Diseases ◽

Ion Pgm

Objectives: To elucidate the molecular epidemiology of hearing loss in a large number of Japanese patients analyzed using massively parallel DNA sequencing (MPS) of target genes. Methods: We performed MPS of target genes using the Ion PGM system with the Ion AmpliSeq and HiSeq 2000 systems using SureSelect in 1389 samples (1120 nonsyndromic hearing loss cases and 269 normal hearing controls). We filtered the variants identified using allele frequencies in a large number of controls and 12 predication program scores. Results: We identified 8376 kinds of variants in the 1389 samples, and 409 835 total variants were detected. After filtering the variants, we selected 2631 kinds of candidate variants. The number of GJB2 mutations was exceptionally high among these variants, followed by those in CDH23, SLC26A4, MYO15A, COL11A2, MYO7A, and OTOF. Conclusions: We performed a large number of MPS analyses and clarified the genetic background of Japanese patients with hearing loss. This data set will be a powerful tool to discover rare causative gene mutations in highly heterogeneous monogenic diseases and reveal the genetic epidemiology of deafness.

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