Genotype–phenotype correlation of two prevalent <i>GJB2</i> mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program

Ma, Yan; Yang, Tao; Li, Yun; Zheng, Tao; Huang, Zhiwu; Li, Xiaohua; Chai, Yimin; Ouyang, Zhiguo; Shen, Xiaoming; Wu, Hao

doi:10.1002/ajmg.a.33698

Cited by 8 publications

(9 citation statements)

References 15 publications

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“…However, in other studies identifying GJB2 mutations in the Chinese population, this mutation was not detected, although the numbers of involved individuals were larger than in the present cohort (6,15,33). While certain studies detected the c.508_511dupAACG allele of GJB2 in the Chinese population, the incidence was <1% of all mutant alleles (35,36). Furthermore, 62 patients were found to carry the p.V27I and p.E114G alleles together, which was recorded as a pathogenic mutation in the GJB2 mutation database.…”

Section: Discussioncontrasting

confidence: 81%

“…By contrast, the allele frequency of p.V37I was ~4.5% in the Chinese Han population. Furthermore, 89% of the newborn infants with homozygous p.V37I had hearing thresholds of ≤65 dB nHL (35). In the present study, the prevalence of the p.V37I allele was 6.5%, which was near that Table IV.…”

Section: Discussionsupporting

confidence: 48%

“…Genotypes of patients with GJB2 mutations. of the controls reported by Ma et al (35). Furthermore, only one patient was homozygous for p.V37I.…”

Section: Discussionmentioning

confidence: 72%

“…Later, certain studies indicated that p.V37I was associated with mild and moderate hearing loss (35,(40)(41)(42). In the study by Ma et al (35), 10.3% of the newborn infants with hearing loss (hearing threshold >35 dB nHL) were homozygous for p.V37I. By contrast, the allele frequency of p.V37I was ~4.5% in the Chinese Han population.…”

Section: Discussionmentioning

confidence: 97%

“…However, Bruzzone et al (39) revealed that homozygous p.V37I can result in a simple loss of channel activity. Later, certain studies indicated that p.V37I was associated with mild and moderate hearing loss (35,(40)(41)(42). In the study by Ma et al (35), 10.3% of the newborn infants with hearing loss (hearing threshold >35 dB nHL) were homozygous for p.V37I.…”

Section: Discussionmentioning

confidence: 98%

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Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss

Jiang

Chen

Shan

et al. 2014

Molecular Medicine Reports

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Abstract. The frequency and distribution of genetic mutations that cause deafness differ significantly according to ethnic group and region. Zhejiang is a province in the southeast of China, with an exceptional racial composition of the population caused by mass migration in ancient China. The purpose of the present study was to investigate the prevalence and spectrum of gap junction-β2 (GJB2), solute carrier family 26 (anion exchanger) member 4 (SLC26A4) and GJB3 mutations in patients with autosomal recessive non-syndromic hearing loss (ARNHL) in this area. A total of 176 unrelated pediatric patients with ARNHL were enrolled in the study. A genomic DNA sample was extracted from the peripheral blood. Polymerase chain reaction was employed, and the products were sequenced to screen for mutations in GJB2. In addition, a SNaPshot sequencing method was utilized to detect four hotspot mutations in SLC26A4 (IVS7-2A>G and c.2168A>G) and GJB3 (c.538C>T and c.547G>A). All patients were subjected to a temporal bone computed tomography scan to identify enlarged vestibular aqueducts (EVA). In total, 14 different mutations, including two new mutations (p.W44L and p.D66N) of GJB2, were detected. The most common pathogenic mutation of GJB2 was c.235delC (15.1%), followed by c.176_191del16 (1.7%), c.299_300delAT (1.7%), c.508_511dup (0.85%) and c.35delG (0.28%) of the total alleles. Mutation analysis of SLC26A4 demonstrated that 13.6% (24/176) of patients carried at least one mutant allele. The patients with EVA (84.2%) had SLC26A4 mutations, and 31% had homozygous mutations. Only one patient carried a heterozygous mutation of GJB3 (c.538C>T). Compared with the other regions of China, in the present population cohort, the prevalence and spectrum of mutations in GJB2 was unique, and in patients with EVA the frequency of a homozygous mutation in SLC26A4 was significantly lower. These findings may be of benefit in genetic counseling and risk assessment for families from this area of China.

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Section: Discussioncontrasting

confidence: 81%

Section: Discussionsupporting

confidence: 48%

“…Genotypes of patients with GJB2 mutations. of the controls reported by Ma et al (35). Furthermore, only one patient was homozygous for p.V37I.…”

Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 98%

See 3 more Smart Citations

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss

Jiang

Chen

Shan

et al. 2014

Molecular Medicine Reports

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GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

2013

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GJB2 mutations are highly prevalent around the world. The multiple predominant mutations present in different populations attest to the importance of this gene for normal cochlear function and suggests an evolutionary heterozygote advantage. The unusually high carrier rate for truncating mutations among hearing-impaired individuals is consistent with either the presence of complementary mutations or a carrier phenotype. The significant rate of asymmetry and progression highlights the importance of diagnostic workup and close follow-up for this highly variable condition.

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Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

Wang

et al. 2017

International Journal of Pediatric Otorhinolaryngology

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Genotype–phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program

Cited by 8 publications

References 15 publications

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss

GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype

Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

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