Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss

Bhalla, Seema; Sharma, Rajni; Khandelwal, Gaurav; Panda, Naresh K.; Khullar, Madhu

doi:10.1016/j.ijporl.2010.12.003

Cited by 10 publications

(4 citation statements)

References 28 publications

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“…Our findings are consistent with a previous study by Yuan et al who reported the absence of del(GJB6-D13S1830) or any point mutations in GJB6 gene in NSHL subjects from northern and southern China [13]. Previous studies from other ethnic populations have also reported the absence of del GJB6-(D13S1830) deletions in NSHL patients in Japanese [26], Korean [27], Indian [28], Turkish [29], Iran [30], Jordanian [31], and Greek Cypriot and Austria patients [32,33]. Del(GJB6-D13S1830) mutation occurs much more frequently in Spain, Israel, United kingdom, Argentina and France, while it is less frequent in the USA, Brazil, Belgium and Australia [5][6][7][8][9]11,34].…”

Section: Discussionsupporting

confidence: 93%

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

Chen

et al. 2012

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionsupporting

confidence: 93%

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

Chen

et al. 2012

International Journal of Pediatric Otorhinolaryngology

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“…Three variations were identified in the GJB6 gene, of which one was a synonymous variant while the other two variations were in the 3’ UTR region. We did not find any pathogenic variants in GJB6 gene which is consistent with other reports from Indian studies [13–15].…”

Section: Resultssupporting

confidence: 93%

Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

Kurva

Bhat

Shettigar

et al. 2020

Preprint

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Hearing loss is one of the most common sensory disorder and approximately 466 million people have disabling hearing loss worldwide. This study was conducted to identify the mutations in the GJB2, GJB3, and GJB6 genes in an Indian cohort with non-syndromic sensorineural hearing loss and ascertain its use for genetic testing. 31 affected individuals with prelingual bilateral non-syndromic severe to profound sensorineural hearing loss were identified based on clinical evaluation and audiometric assessment. Sanger Sequencing method was used. Six out of 31 affected individuals showed pathogenic nonsense mutations in GJB2 gene, accounting to 19.3%. Of the 6 affected individuals, 5 were homozygous for c.71G>A(p.Trp24Ter) and one was compound heterozygous for c.71G>A and c.370C>T(p.Gln124Ter). Missense mutations [c.380G>A(p.Arg127His) and c.457G>A(p.Val153Ile)], and 3' UTR variations were also identified in GJB2 gene. GJB3 and GJB6 genes showed only silent mutations and 3' UTR variations. 19.3% of affected individuals showing pathogenic mutations in GJB2 gene in our cohort is comparable to other Indian studies (approximately 20%) and it is less as compared to Caucasian, Japanese, and Chinese studies (approximately 50%). Lower occurrence of pathogenic mutations in GJB2 gene in our cohort and other Indian studies as compared to other Caucasian, Japanese and Chinese studies, and absence of pathogenic mutations in GJB3 and GJB6 genes indicates that these genes may have a limited role in the Indian population. Hence there is a need to identify genes that play a major role in the Indian population so that they can be used for genetic testing for NHSL to aid in accurate and early diagnosis.

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“…The del( GJB6 -D13S1830) mutation is the second most frequent genetic cause of non-syndromic prelingual hearing impairment in the Spanish population (after the 35delG mutation in GJB2 ) [11]. This deletion is also prevalent in France, Brazil, and Israel [12,35,36], but is rare or absent in Italy (i.e., Sicily), Romania, Iran, and India [7,37,38,39,40,41]. This deletion was also absent in Nigerians [28] and in Ghanaians [31].…”

Section: Discussionmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

Wonkam

Chimusa

Noubiap

et al. 2019

Genes

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This study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We selected only families segregating HI, with at least two affected individuals and with strong evidence of non-environmental causes. DNA was extracted from peripheral blood, and the entire coding region of GJB2 was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the GJB6-D3S1830 deletion. A total of 93 patients, belonging to 41 families, were included in the analysis. Hearing impairment was sensorineural in 51 out of 54 (94.4%) patients. Pedigree analysis suggested autosomal recessive inheritance in 85.4% (35/41) of families. Hearing impairment was inherited in an autosomal dominant and mitochondrial mode in 12.2% (5/41) and 2.4% (1/41) of families, respectively. Most HI participants were non-syndromic (92.5%; 86/93). Four patients from two families presented with type 2 Waardenburg syndrome, and three cases of type 2 Usher syndrome were identified in one family. No GJB2 mutations were found in any of the 29 families with non-syndromic HI. Additionally, the GJB6-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the GJB2 gene and the del(GJB6-D13S1830) mutation do not contribute to familial HI in Cameroon.

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Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss

Cited by 10 publications

References 28 publications

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

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