<scp>GJB</scp>3/<scp>GJB</scp>6 screening in <scp>GJB</scp>2 carriers with idiopathic hearing loss: Is it necessary?

Chen, Kaitian; Wu, Xuan; Zong, Ling; Jiang, Hongyan

doi:10.1002/jcla.22592

Cited by 9 publications

(9 citation statements)

References 29 publications

(91 reference statements)

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“…However, digenic mutations have also been reported recently [7][8][9][10][11][12]. In our cases, the compound heterozygous for GJB2 variants (p.V37I ) and MYO7A (p.L347I) variant were found in the proband using whole-exome sequencing.…”

Section: Discussionmentioning

confidence: 48%

“…In 2009, Liu et al [8] identi ed heterozygous GJB2 and GJB3 mutations in NHSL patients. Since then, many other digenic inheritance has been reported [7][8][9][10][11][12], such as GJB2/GJB3, GJB2/MITF, and GJB2/ TMPRSS3 (Table 1). Although the digenic inheritance has been increasingly described in NSHL, the prevalence is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Although the digenic inheritance has been increasingly described in NSHL, the prevalence is unknown. Chen et al [7] assess the contributions of variants in GJB3 or GJB6 in a cohort of 100 NSHL patients with likely pathogenic heterozygous GJB2 mutations. Putatively causative GJB3 variant were 1% (1/100) and no GJB6 mutation was found in this cohort.…”

Section: Discussionmentioning

confidence: 99%

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Putative Digenic GJBI2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48, XXYY Klinefelter Syndrome

Qin

Zhang

et al. 2020

Preprint

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Background: 48, XXYY Klinefelter syndrome is a rare sex chromosome abnormality. Nonsyndromic hearing loss (NSHL) is the most frequent hereditary type of hearing impairment. There has been no report of NSHL combined with 48XXYY. The purpose of this study was to explore the underlying genetic cause in a three-generation family affected by NSHL. The proband had concomitant NSHL and 48, XXYY syndrome. The whole-exome sequencing was performed in the proband. The candidate pathogenic variants identified by whole-exome sequencing were then confirmed by Sanger sequencing and segregation analysis.Results: The proband was identified to be compound heterozygous for c.109G>A (p.V37I) variant in the GJB2 gene and additional heterozygous for the c.1039C>A (p.L347I) variants in the MYO7A gene. His mother had normal hearing and did not have any form of variant. His father and uncle, both had NSHL, were digenic compound heterozygote for the GJB2 p.V37I and MYO7A p.L347I variants, thus suggesting a possible GJB2/MYO7A digenic inheritance of NSHL in this family consist with the clinical phenotype.Conclusions: Our findings reported a putative GJB2/MYO7A digenic inheritance form of hearing loss, which expands the mutation spectrum of NSHL. This is also the first report of concomitant NSHL and 48, XXYY syndrome.

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Section: Discussionmentioning

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Putative Digenic GJBI2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48, XXYY Klinefelter Syndrome

Qin

Zhang

et al. 2020

Preprint

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“…Most NSHL forms are monogenic and have genetic heterogeneity. However, digenic/oligogenic inheritance has been reported recently [4-9]. Here, the novel compounds heterozygous for the GJB2 p.V37I variant and MYO7A p.L347I variant were found in the proband.…”

Section: Discussionmentioning

confidence: 78%

“…In 2009, Liu et al [5] have identified heterozygous GJB2 and GJB3 mutations in patients with NSHL. Since then, many other forms of digenic inheritance have been reported [4-9], such as GJB2/GJB3 , GJB2/MITF , and GJB2/TMPRSS3 (Table 1). Although digenic inheritance has been increasingly described in NSHL, its prevalence is unknown.…”

Section: Discussionmentioning

confidence: 99%

Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome

Zhang

Qin

et al. 2020

Hum Hered

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Objectives: Nonsyndromic hearing loss (NSHL) is the most frequent type of hereditary hearing impairment. Here, we explored the underlying genetic cause of NSHL in a three-generation family using whole-exome sequencing. The proband had concomitant NSHL and rare 48,XXYY Klinefelter syndrome. Material and Methods: Genomic DNA was extracted from the peripheral blood of the proband and their family members. Sanger sequencing and pedigree verification were performed on the pathogenic variants filtered by whole-exome sequencing. The function of the variants was analyzed using bioinformatics software. Results: The proband was digenic heterozygous for p.V37I in the GJB2 gene and p.L347I in the MYO7A gene. The proband’s mother had normal hearing and did not have any variant. The proband’s father and uncle both had NSHL and were compound for the GJB2 p.V37I and MYO7A p.L347I variants, thus indicating a possible GJB2/MYO7A digenic inheritance of NSHL. 48,XXYY Klinefelter syndrome was discovered in the proband after the karyotype analysis, while his parents both had normal karyotypes. Conclusions: Our findings reported a putative GJB2/MYO7A digenic inheritance form of hearing loss, expanding the genotype and phenotype spectrum of NSHL. In addition, this is the first report of concomitant NSHL and 48,XXYY syndrome.

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Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models

Tsai,

Lu,

Chan

et al. 2023

Computational and Structural Biotechnology Journal

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GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

Cited by 9 publications

References 29 publications

Putative Digenic GJBI2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48, XXYY Klinefelter Syndrome

Putative Digenic GJBI2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48, XXYY Klinefelter Syndrome

Putative Digenic <b><i>GJB2/MYO7A</i></b> Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models

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