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

Chen, Peiwei; Chen, Hui; Fu, Shanlin; Chen, Guanming; Dong, Jing

doi:10.1016/j.ijporl.2011.11.018

Cited by 8 publications

(7 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As in previous studies amongst Chinese (Chen et al, 2012), Indians (Padma et al, 2009), Turkish (Tekin et al, 2003), and both African American and Caribbean Hispanics …”

Section: Discussionsupporting

confidence: 68%

“…Indeed, Cameroon is called ''Africa in miniature'' as the Cameroonian population has been shown, not only at the cultural level but also at the population genetic and linguistic level, to mimic the genetic diversity that is observed in Africa (Tishkoff et al, 2009 Detection of del(GJB6-D13S1830) was performed using the method and primers described by del Castillo et al (2002Castillo et al ( , 2003. The entire coding region of GJB6 was amplified using the method described by Chen et al (2012). A 1348 bp fragment consisting of the entire GJA1 coding region was amplified using the F1 (5¢ -GAA ATA CGT GAA ACC GTT GG -3¢) and R3 (5¢ -CCT GGT GCA CTT TCT ACA GC -3¢) primers described by Huang et al and which were designed to distinguish between GJA1 and its pseudogene (Huang et al, 2011).…”

Section: Patient Selectionmentioning

confidence: 99%

See 1 more Smart Citation

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

Bosch

Lebeko²,

Nziale³

et al. 2014

OMICS: A Journal of Integrative Biology

View full text Add to dashboard Cite

Deafness is the most common sensory disability in the world and has a variety of causes. Globally, mutations in GJB2 have been shown to play a major role in nonsyndromic deafness, but this has not been seen in Africans. Two other connexin genes, GJB6 and GJA1, have been implicated in hearing loss but have seldom been investigated in African populations. We set out to investigate the role of genetic variation in GJB6 and GJA1 in a group of Cameroonian and South African Blacks with nonsyndromic recessive hearing loss. A subset of 100 patients, affected with nonsyndromic hearing loss, from a cohort that was previously shown not to have GJB2 mutation, was analyzed by Sanger sequencing of the entire coding regions of GJB6 and GJA1. In addition, the large-scale GJB6-D3S1830 deletion was also investigated. No pathogenic mutation was detected in either GJB6 or GJA1, nor was the GJB6-D3S1830 deletion detected. There were no statistically significant differences in sequence variants between patients and controls. Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa. Currently, there is no sufficient evidence to support their testing in a clinical setting for individuals of African ancestry.

show abstract

“…As in previous studies amongst Chinese (Chen et al, 2012), Indians (Padma et al, 2009), Turkish (Tekin et al, 2003), and both African American and Caribbean Hispanics …”

Section: Discussionsupporting

confidence: 68%

Section: Patient Selectionmentioning

confidence: 99%

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

Bosch

Lebeko²,

Nziale³

et al. 2014

OMICS: A Journal of Integrative Biology

View full text Add to dashboard Cite

show abstract

“…Detection of del ( GJB6 -D13S1830) was performed using the method and primers described by del (del Castillo et al, 2002; del Castillo et al, 2003). The entire coding region of GJB6 was amplified using the method described by (Chen et al, 2012). The PCR results were validated by Sanger sequencing of 10% of the sample.…”

Section: Methodsmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

View full text Add to dashboard Cite

Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana. Medical reports of 1,104 students attending schools for the deaf were analyzed. Families segregating HI, as well as isolated cases of HI of putative genetic origin were recruited. DNA was extracted from peripheral blood followed by Sanger sequencing of the entire coding region of GJB2. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of GJB6-D3S1830 deletion. Ninetyseven families segregating HI were identified, with 235 affected individuals; and a total of 166 isolated cases of putative genetic causes, were sampled from 11 schools for the deaf in Ghana. The environmental factors, particularly meningitis, remain a major cause of HI impairment in Ghana. The male/female ratio was 1.49. Only 59.6% of the patients had their first comprehensive HI test between 6 to 11 years of age. Nearly all the participants had sensorineural HI (99.5%; n = 639). The majority had pre-lingual HI (68.3%, n = 754), of which 92.8% were congenital. Pedigree analysis suggested autosomal recessive inheritance in 96.9% of the familial cases. GJB2-R143W mutation, previously reported as founder a mutation in Ghana accounted for 25.9% (21/81) in the homozygous state in familial cases, and in 7.9% (11/140) of non-familial non-syndromic congenital HI cases, of putative genetic origin. In a control population without HI, we found a prevalent of GJB2-R143W carriers of 1.4% (2/145), in the heterozygous state. No GJB6-D3S1830 deletion was identified in any of the HI patients. GJB2-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice. The large connexin 30 gene deletion (GJB6-D3S1830 deletion) does not account for of congenital non-syndromic HI in Ghana. There is a need to employ next generation sequencing approaches and functional genomics studies to identify the other genes involved in most families and isolated cases of HI in Ghana.

show abstract

“…However, when the whole GJB6 coding region was screened for deletions, such as del (GJB6-D13S1830), in 655 hearing impaired patients in Central China, the del (GJB6-D13S1830) or other mutations in the GJB6 gene were not observed, suggesting that mutation of GJB6 is not a common cause of NSHL among the Chinese population (Chen et al, 2012). Therefore, other connexin genes, such as GJB3 and GJA1 or other genes causing NSHL, which have not yet been analyzed, may contribute to the mutation spectrum in the eight probands with only the heterozygous c.235delC mutation in the Fujian population (López-Bigas et al, 2001;Thönnissen et al, 2002;Ramzan et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Chen

Jiang

Liu

et al. 2014

Annals of Human Genetics

View full text Add to dashboard Cite

SummaryMutations in the GJB2 gene, encoding connexin26, which is expressed in the inner ear, have been shown to be responsible for the majority of nonsyndromic hearing loss (NSHL) cases. To update and evaluate the spectrum and prevalence of GJB2 mutations in the Fujian population, we screened exon 2 (coding), exon 1, and flanking introns of GJB2 in 107 NSHL probands and 61 individuals with normal hearing. Twelve different variants were identified, including three pathogenic mutations (c.235delC, c.299_300delAT, and c.508insAACG), one hypomorphic allele (p

show abstract

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

Cited by 8 publications

References 34 publications

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

In Search of Genetic Markers for Nonsyndromic Deafness in Africa: A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Update of the Spectrum ofGJB2Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China

Contact Info

Product

Resources

About