Screening of <i>GJB6</i> Gene Large Deletions Among Syrians with Congenital Hearing Impairment

Zaidieh, Tarek; Habbal, Wafa; Monem, Fawza

doi:10.1089/gtmb.2015.0019

Cited by 3 publications

(4 citation statements)

References 18 publications

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“…GJB6 is a gap junction protein, which facilitates the movement of molecules 149 . Mutations in GJB6 are associated with difficulty with CVDs 149,150 .…”

Section: Resultsmentioning

confidence: 99%

“…149 Mutations in GJB6 are associated with difficulty with CVDs. 149,150 We mapped a total of 167 mutations onto the GJB6 sequence (Figure 7K). There is one missense, 78 introns, 34 5′ flank, 51 3′ flank, one 5′ UTR and two 3′ UTR mutations.…”

Section: Gjb6mentioning

confidence: 99%

“…GJB6 is a gap junction protein, which facilitates the movement of molecules. 149 Mutations in GJB6 are associated with difficulty with CVDs. 149,150 We mapped a total of 167 mutations onto the GJB6 sequence (Figure 7K).…”

Section: Gjb6mentioning

confidence: 99%

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Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

Ahmed

Zeeshan

Persaud

et al. 2023

Clinical and Translational Dis

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Background Cardiovascular disease (CVD) is a leading cause of premature mortality in the United States and the world. CVD comprises several complex and mostly heritable conditions, which range from myocardial infarction to congenital heart disease. The risk factors contributing to the development of CVD and response to therapy in an individual patient are highly variable. Here, we report our findings from an integrative analysis of gene expression, disease‐causing gene variants and associated phenotypes among CVD populations, with a focus on high‐risk heart failure (HF) patients. Methods We built a cohort using electronic health records of consented patients with available samples and then performed high‐throughput whole genome and RNA sequencing of key genes responsible for HF and other CVD pathologies. Our in‐depth gene expression analysis revealed differentially expressed genes associated with HF and other CVDs. We performed a variant analysis of whole genome sequence data of CVD patients and identified genes with altered gene expression with functional and non‐functional mutations in these genes. Results Our results highlight the importance of investigating the mechanisms of CVD progression through multi‐omics datasets. Next, we performed splice mutation and variant distribution analysis of genes associated with HF and other CVD. We implemented Jensen–Shannon divergence (JSD)‐based method and identified HBA1, FADD, ADRB2, NPPB, ADRB1, ADB and NPPC genes with the greatest variance based on their JSD scores. Our study provided evidence that applying integrative data analysis approach involving genomics and transcriptomics data will not only help understand the pathophysiology of CVD diseases but also reduce heterogeneity in disease subtypes.

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“…GJB6 is a gap junction protein, which facilitates the movement of molecules 149 . Mutations in GJB6 are associated with difficulty with CVDs 149,150 .…”

Section: Resultsmentioning

confidence: 99%

Section: Gjb6mentioning

confidence: 99%

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Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

Ahmed

Zeeshan

Persaud

et al. 2023

Clinical and Translational Dis

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“…There also appears to be notable differences in the frequency of the del(GJB6‐D13S1830) deletion, as depicted in studies in different populations. Although the frequency of the del(GJB6‐D13S1830) deletion in Brazil, France, Czechia, Russia, and Argentina is high (Bliznets et al, ; Dalamón et al, ; Marlin et al, ; Piatto, Bertollo, Sartorato, & Maniglia, ; Seeman et al, ), it is rare or infrequently observed in Austria and Morocco and Syria (Abidi et al, ; Frei et al, ; Gazzaz et al, ; Zaidieh, Habbal, & Monem, ). In contrast, the GJB6 deletion was not identified in many regions including India, Taiwan, Cameroon, Sicily, Mexico, Iran, Macedonia, and Turkey (Adhikary et al, ; Amorini et al, ; Bhalla, Sharma, Khandelwal, Panda, & Khular, , ; Bosch et al, ; Esmaeili, Bonyandi, & Nejadkazem, ; Hernandez‐Juarez et al, ; Naddafnia, Noormohammadi, Irani, & Salahshoorifar, ; Sirmaci, Akcayoz‐Duman, & Tekin, ; Sukarova Stefanovska, Cakar, Filipce, & Plaseska Karanfilska, ; Wonkam et al, ; Yang et al, ).…”

Section: Discussionmentioning

confidence: 99%

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Pandya

O’Brien

Kovasala

et al. 2020

Molec Gen & Gen Med

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Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to be the cause for hearing loss when inherited in trans to a GJB2 mutation. Methods We screened 2,376 probands from a National DNA Repository of deaf individuals. Results Fifty‐two of 318 heterozygous probands with pathogenic GJB2 sequence variants had a GJB6 deletion. Additionally, eight probands had an isolated heterozygous GJB6 deletion that did not explain their hearing loss. In two deaf subjects, including one proband, a homozygous GJB6 deletion was the cause for their hearing loss, a rare occurrence not reported to date. Conclusion This study represents the largest US cohort of deaf individuals harboring GJB2 and GJB6 variants, including unique subsets of families with deaf parents. Testing additional members to clarify the phase of GJB2/GJB6 variants in multiplex families was crucial in interpreting clinical significance of the variants in the proband. It highlights the importance of determining the phase of GJB2/GJB6 variants when interpreting molecular test results especially in multiplex families with assortative mating.

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Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss

Tlili

MuteryAbdullah

MohamedWalaa

et al. 2017

Genetic Testing and Molecular Biomarkers

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Screening of GJB6 Gene Large Deletions Among Syrians with Congenital Hearing Impairment

Abstract: Our study reports the first case in Syria with the del(GJB6-D13S1830) mutation. This mutation might be considered in the diagnosis and genetic counseling of inherited hearing impairment in the Syrian population.

Cited by 3 publications

References 18 publications

Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss

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