Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

Niceta, Marcello; Fabiano, Carmelo; Sammarco, P.; Piccione, Maria; Antona, Vincenzo; Giuffrè, Mario; Corsello, Giovanni

doi:10.1002/ajmg.a.31836

Cited by 8 publications

(6 citation statements)

References 32 publications

(47 reference statements)

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“…In Sicily, few studies have been carried out on the frequency of specific GJB2 variants in NSHL subjects and we have little reference data. An epidemiological study showed that out of 1040 Sicilian newborns, 4.5% of the unrelated children had at least one GJB2 pathogenic allele (Niceta et al., ).…”

Section: Discussionsupporting

confidence: 93%

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Amorini

Romeo

Bruno

et al. 2015

Annals of Human Genetics

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SummaryMutations in the gene encoding the gap junction protein connexin 26 (GJB2) and connexin 30 (GJB6) have been shown to be a major contributor to prelingual, sensorineural, nonsyndromic deafness.The aim of this study was to characterize and establish the prevalence of GJB2 and GJB6 gene alterations in 196 patients affected by sensorineural, nonsyndromic hearing loss, from Eastern Sicily. We performed sequence analysis of GJB2 and identified sequence variants in 68 out of 196 patients (34.7%); (28 homozygous for c.35delG, 22 compound heterozygous and 11 with only one variant allele).

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Section: Discussionsupporting

confidence: 93%

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Amorini

Romeo

Bruno

et al. 2015

Annals of Human Genetics

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“…GJB2: c.167delT was reported to be common in the Eurasian populations and postulated to have a single origin of allele due to the observed conserved haplotypes around the mutation [89]. Although the mutation was prevalent in the territories of the Middle East [89][90][91], we found a high number of alleles with PLP in the United States of America. The fourth most common GJB2 mutation in the American population is GJB2: c.167delT and was found to account for about 3.6% of cases.…”

Section: Discussionmentioning

confidence: 48%

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

Adadey

Wonkam‐Tingang

Aboagye

et al. 2020

Life

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Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (n = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and GJB2 (520/571 publications) was the most studied among the seven. Excluding PLP in GJB2, GJB6, and GJA1 the other connexin gene variants (thus GJB3, GJB4, GJC3, and GJC1 variants) had conflicting association with HI. Biallelic GJB2 PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common GJB2 alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only GJB2 and GJB3 are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globally.

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“…[17][18][19] Mutation c.167delT in Eurasia prevails mostly in the territories of the Middle East, although this mutation is sporadically found in other regions as well. 20,21 Mutation c.167delT was only found in two VolgaUral region populations-Chuvashes (1%) and Komi-Permyaks (2.5%). These data may confirm either distribution of chromosomes with c.167delT mutation that originated from the Middle East among Chuvashes and Komi-Permyaks, or an independent origin of c.167delT, as this mutation was not found in people neighboring Chuvashes and Komi-Permyaks.…”

Section: Mutation C167deltmentioning

confidence: 99%

“…[11][12][13][14][15][16] Mutation c.167delT is widespread among Ashkenazi Jews and is found sporadically in some other populations. [17][18][19][20][21] Mutation p.Trp24X is widespread in India 22 and in the Romany (Gypsy) population (Eastern Europe). 23 p.Arg143Trp is a major mutation in Ghana (West Africa), 24 and mutation p.Val37Ile has the greatest prevalence in populations of Southeast Asia.…”

Section: Introductionmentioning

confidence: 99%

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

Dzhemileva

Barashkov²,

Posukh

et al. 2010

J Hum Genet

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Epidemiological study of nonsyndromic hearing loss in Sicilian newborns

Cited by 8 publications

References 32 publications

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Prevalence of Deafness‐Associated Connexin‐26 (GJB2) and Connexin‐30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia

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