Genetic etiology of non-syndromic hearing loss in Europe

Castillo, Ignacio del; Morín, Matías; Domínguez-Ruiz, María; Moreno-Pelayo, Miguel A.

doi:10.1007/s00439-021-02425-6

Cited by 41 publications

(43 citation statements)

References 92 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Resmerita et al screened a cohort of 291 patients with congenital non-syndromic HI from Northeastern Romania, by using Multiplex-Ligation-dependent Probe Amplification (MLPA) followed by Sanger sequencing of the GJB2 coding region [10]. Biallelic DFNB1 mutations were found in about 30% of the cases, the c.35delG variant being the most frequent (83% of pathogenic alleles), figures that are similar to those observed in other European populations [11]. As regards mutations outside the GJB2 coding region, Resmerita et al did find the splicesite variant c.-23+1G>A but not the large deletions that are more frequent in populations of Western Europe.…”

mentioning

confidence: 79%

Genetics of Hearing Impairment

Kremer

Castillo

2022

Genes

Self Cite

View full text Add to dashboard Cite

show abstract

mentioning

confidence: 79%

Genetics of Hearing Impairment

Kremer

Castillo

2022

Genes

Self Cite

View full text Add to dashboard Cite

show abstract

“…Alongside the CNVs, we detected three P/LP sequence variants, totaling 42 heterozygotes for variants in STRC. This gene has also been described as the second most common form of autosomal recessive HL in European populations ( Del Castillo et al, 2022 ).…”

Section: Discussionmentioning

confidence: 99%

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Quaio

Coelho²,

Moura³

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pathogenic variants associated with nonsyndromic hearing loss (NSHL). We found relevant frequencies of individuals harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 heterozygotes (2.58%) for copy-number variants (CNV), and four homozygotes (0.19%) for sequence variants. The top five most frequent genes and their corresponding combined allelic frequencies (AF) were GJB2 (AF = 1.57%), STRC (AF = 1%), OTOA (AF = 0.69%), TMPRSS3 (AF = 0.41%), and OTOF (AF = 0.29%). The most frequent sequence variant was GJB2:c.35del (AF = 0.72%), followed by OTOA:p. (Glu787Ter) (AF = 0.61%), while the most recurrent CNV was a microdeletion of 57.9 kb involving the STRC gene (AF = 0.91%). An important fraction of these individuals (n = 104; 4.96%) presented variants associated with autosomal dominant forms of NSHL, which may imply the development of some hearing impairment in the future. Using data from the heterozygous individuals for recessive forms and the Hardy–Weinberg equation, we estimated the population frequency of affected individuals with autosomal recessive NSHL to be 1:2,222. Considering that the overall prevalence of HL in adults ranges from 4–15% worldwide, our data indicate that an important fraction of this condition may be associated with a monogenic origin and dominant inheritance.

show abstract

“…Pathogenic variants in the STRC , USH2A , SLC26A4 , MYO7A , OTOF , MYO15A , and TECTA genes are less frequent but occur in Europe and elsewhere in the world. Mutations in other genes have been found in rare cases ( Del Castillo et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Петрова

Tebieva

Кадышев

et al. 2023

PeerJ

View full text Add to dashboard Cite

More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss. In this study, genetic heterogeneity of hereditary non-syndromic sensorineural hearing loss (NSNHL) in a cohort of 109 patients and an assessment of the frequency of two GJB2 gene pathogenic variants in a cohort of 349 healthy individuals from the populations of the Republic of North Ossetia–Alania (RNO–Alania) were assessed. The molecular genetic cause of NSNHL in the GJB2 gene in RNO–Alania was confirmed in ~30% of the cases, including ~27% in Ossetians. In Russian patients, the most frequent variant is GJB2:c.35delG (~83%). The GJB2:c.358_360delGAG variant was found to be the most frequent among Ossetians (~54%). Two genetic variants in GJB2, c.35delG and c.358_360delGAG, accounted for 91% of GJB2 pathogenic alleles in the Ossetian patients. A search for large genome rearrangements revealed etiological cause in two Ossetian patients, a deletion at the POU3F4 gene locus associated with X-linked hearing loss (type DFNX2). In another Ossetian patient, a biallelic pathogenic variant in the MYO15A gene caused hearing loss type DFNB3 was identified, and in one Russian family a heterozygous MYH14 gene variant associated with dominant NSNHL was found. Thus, the informative value of the diagnosis was ~37% among all patients with NSNHL from RNO–Alania and ~32% among the Ossetians. These estimates correspond to the literature data on the fraction of recessive genetic forms of hearing loss within the affected population. The importance of this study consists not only in the estimation of the most prevalent pathogenic genetic changes in the Ossetian cohort of patients which could be useful for the public health but also in the genetic counselling of the affected families with regard to the high allele frequencies of revealed pathogenic variants as well as to the assortative mating in community of people with hearing loss.

show abstract

Genetic etiology of non-syndromic hearing loss in Europe

Cited by 41 publications

References 92 publications

Genetics of Hearing Impairment

Genetics of Hearing Impairment

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Contact Info

Product

Resources

About