Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations

Sanecka, Agnieszka; Biernacka, Katarzyna; Sosna, Magdalena; Mueller-Malesińska, Małgorzata; Płoski, Rafał; Skarżyńśki, Henryk; Piotrowicz, Ryszard

doi:10.1016/j.bjorl.2016.02.008

Cited by 4 publications

(4 citation statements)

References 23 publications

(23 reference statements)

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“…Thyroid and renal abnormalities, prolonged QT, enlarged vestibular aqueducts (EVA), and other inner ear abnormalities have been known to be associated with HL; therefore, evaluations for these respective findings have become part of the routine workup for HL [Cremers et al, ; Phelps et al, ; Ravecca et al, ; Sanecka et al, ]. Among those with sufficient thyroid and renal lab results available (440), initial screening showed 121 (27.5%) had thyroid or renal abnormalities of which a high carbon dioxide level or high T4 were most common (37.2% and 23.1%, respectively), the vast majority of which were not clinically relevant and can prove to be challenging in managing these patients.…”

Section: Resultsmentioning

confidence: 99%

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Mehta

Noon

Schwartz

et al. 2016

American J of Med Genetics Pt A

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Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis with the institution of universal newborn hearing screening, The Genetics of Hearing Loss Clinic was established at The Children's Hospital of Philadelphia to manage the diagnosis, testing, and genetic counseling for individuals and families. This paper described a cohort of 660 individuals with a diagnosis of hearing loss evaluated between July 2008 and July 2015 in the Genetics of Hearing Loss Clinic. To elucidate the cause of hearing loss in this cohort for better management and prognostication, testing included single nucleotide polymorphism chromosomal microarray, hearing loss next generation sequencing panel, and additional clinical tests inclusive of thyroid and renal function studies, temporal bone magnetic resonance imaging, and electrocardiogram. Of those evaluated, most had bilateral sensorineural hearing loss, occurring in 489/660 (74%). Additionally, 612/660 (93%) of patients presented with a nonsyndromic form of hearing loss (no other observed clinical findings at the time of exam), of which pathogenic mutations in GJB2 were most prevalent. Of the individuals with syndromic manifestations (48/660), Usher and Waardenburg syndrome were most commonly observed. A family history of hearing loss (first degree relative) was present in 12.6% of families with available information. Through molecular analyses, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 157/660 (23.8%) of individuals. © 2016 Wiley Periodicals, Inc.

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Section: Resultsmentioning

confidence: 99%

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Mehta

Noon

Schwartz

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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“…The NGS panel for genes responsible for hearing loss showed homozygosity for a pathogenic GJB2 gene variant; previous studies denied a major incidence of cardiac arrhythmias and electrocardiographic parameter abnormalities (atrioventricular conduction or ventricular repolarization) in patients affected by this condition [24].…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

et al. 2022

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In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can support a better cardiovascular risk stratification beyond the typical risk factors, suchas contractile function and QT interval duration, uncovering a possible patient’s concealed predisposition to heart failure, life threatening arrhythmias and sudden death. Specifically, an integrated cardiogenetic approach in daily oncological clinical practice can ensure the best patient-centered healthcare model, suggesting, also the adequate cardiac monitoring timing and alternative cancer treatments, reducing drug-related complications. We report the case of a 14-month-old girl affected by neuroblastoma, treated by cisplatin, complicated by cardiac arrest. We described the genetic characterization of a Ryanodine receptor 2 (RYR2) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment.

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“…Currently, the most common GJB2 mutations were identified, including c.35delG, c.167del16, and c.235delC. These mutations have been demonstrated to responsible for the hearing loss identified among different populations …”

Section: Introductionmentioning

confidence: 99%

A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family

Zhang

Qiu

et al. 2018

Clinical Laboratory Analysis

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Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations

Abstract: No association was found between the presence of GJB2 mutations encoding connexin 26 in patients with hearing loss and their ECG parameters (PR, QRS, QTc).

Cited by 4 publications

References 23 publications

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family

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