Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation

Abe, Satoko; Takeda, Hiroyuki; Nishio, Shin‐ya; Usami, Shin‐ichi

doi:10.1038/s41439-018-0023-9

Cited by 19 publications

(14 citation statements)

References 15 publications

(21 reference statements)

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“…Nevertheless, in human studies, genetic variation in a shared set of genes has been shown to confer risk to both cardiovascular disease and HL independently. EYA4 mutations have been reported in persons with SNHL preceding dilated cardiomyopathy by 1 to 2 decades and multiple kindreds with SNHL alone 41–43 . SNPs in EYA4 independently have been implicated in GWAS on atrial fibrillation and HL 16,44 .…”

Section: Cardiovascular Diseasementioning

confidence: 99%

“…Traditionally, cardiovascular abnormalities are thought to be related to congenital syndromic forms of HL. These syndromes include Jervell and Lange-Nielsen [41][42][43] SNPs in EYA4 independently have been implicated in GWAS on atrial fibrillation and HL. 16,44 Genetic variations in genes related to homocysteine metabolism including MTHFR are associated with susceptibility to age-related HL.…”

Section: Cardiovascular Diseasementioning

confidence: 99%

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Genetics of Postlingual Sensorineural Hearing Loss

et al. 2020

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Literature and clinical practice around adult‐onset hearing loss (HL) has traditionally focused on environmental risk factors, including noise exposure, ototoxic drug exposure, and cardiovascular disease. The most common diagnosis in adult‐onset HL is presbycusis. However, the age of onset of presbycusis varies, and patients often describe family history of HL as well as individual variation in progression and severity. In recent years, there has been accumulating evidence of gene–environment interactions underlying adult cases of HL. Susceptibility loci for age‐related HL have been identified, and genes related to postlingual nonsyndromic HL continue to be discovered through individual reports and genome‐wide association studies. This review will outline main concepts in genetics as related to HL, identify implicated genes, and discuss clinical implications. Laryngoscope, 131:401–409, 2021

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Section: Cardiovascular Diseasementioning

confidence: 99%

Section: Cardiovascular Diseasementioning

confidence: 99%

Genetics of Postlingual Sensorineural Hearing Loss

et al. 2020

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“…1F ). EYA4 , a gene associated with hearing loss and cardiomyopathy(Abe et al, 2018), was over-expressed in older individuals regardless of cancer status in four out of six tissue types. Similarly, HENMT1, NOA1 , and ZNF518B were over-expressed in younger individuals in three out of six tissue types.…”

Section: Resultsmentioning

confidence: 99%

Pan-cancer analysis reveals unique molecular patterns associated with age

Shah¹,

Verma²,

Marderstein³

et al. 2020

Preprint

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Older age is a strong risk factor for several diseases, including cancer. In cancer, older age is also frequently associated with a more aggressive, treatment-refractory tumor phenotype. The etiology and biology of age-associated differences among cancers are poorly understood. To address this knowledge gap, we sought to delineate the differences in tumor molecular characteristics between younger and older patients across a variety of tumor types. We found that tumors in younger and older patients exhibit widespread molecular differences. First, we observed that tumors in younger individuals, unlike those in older ones, exhibit an accelerated molecular aging phenotype associated with some hallmarks of premature senescence. Second, we found that tumors from younger individuals are enriched for driver gene mutations resulting in homologous recombination defects. Third, we observed a trend towards a decrease in immune infiltration and function in older patients and found that, immunologically, young tumor tissue resembles aged healthy tissue. Taken together, we find that tumors from young individuals possess unique characteristics compared to tumors in older individuals, which can potentially be leveraged for differential therapeutic strategies.

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“…Truncating EYA4 mutations cause late-onset autosomal dominant dilated cardiomyopathy. However, the patients with EYA4 mutations were characterized by progressive and late-onset in reported cases [ 13 , 14 ]. Thus, the relationship between the disruption of EYA4 gene and CHD phenotypes in our case is still need to be further studied.…”

Section: Discussionmentioning

confidence: 99%

A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report

et al. 2020

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Background Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases. Case presentation We present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes. Conclusions Although congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development.

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Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation

Cited by 19 publications

References 15 publications

Genetics of Postlingual Sensorineural Hearing Loss

Genetics of Postlingual Sensorineural Hearing Loss

Pan-cancer analysis reveals unique molecular patterns associated with age

A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report

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