Occurrence of del( GIB6 -D13S1830) mutation in italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele

Gualandi, Francesca; Ravani, Anna; Berto, Anna; Burdo, Sandro; Trevisi, Patrizia; Ferlini, Alessandra; Martini, Alessandro; Calzolari, Elisa

doi:10.1080/03655230410017166

Cited by 22 publications

(17 citation statements)

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“…The deletion del(GJB6-D13S1830) was the second most common mutation; its frequency was similar to that found in Spanish population and significantly higher than that reported in Italy [25,33]. Similar results were found by Dalamon et al in another Argentinean sample population [20].…”

Section: Discussionsupporting

confidence: 90%

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Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Gravina

Foncuberta

Prieto

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionsupporting

confidence: 90%

“…As expected, c.35delG was the most prevalent mutation, accounting for 59% of all pathogenic alleles and 65% of GJB2 alleles. This frequency is between that reported for the Spanish population (55%) and the Italian one (76%) [8,33].…”

Section: Discussionsupporting

confidence: 42%

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Gravina

Foncuberta

Prieto

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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“…An allele frequency of 1.6%, as observed in the present study for del(GJB6-D13S1830), is similar to the frequency reported for Italy and Belgium [del Castillo I et al, 2003;Gualandi et al, 2004]. This mutation occurs much more frequently in Spain (7.6-9.7%), Israel (6-7.1%), United Kingdom (5.9%) and the south of France (15%) [Marlin et al, 2005]; it is less frequent in the USA, Belgium, and Australia (1.3-4.5%) and it has not been detected in Iran [Esmaeili et al, 2007], Cyprus [Neocleous et al, 2006], Taiwan [Yang et al, 2007] and China [Yuan et al, 2008].…”

Section: Discussionsupporting

confidence: 75%

GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population

Dalamon

Lotersztein

Béhèran³

et al. 2009

Audiol Neurotol

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Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss.

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“…The 342-kb deletion ( GJB6 -D13S1830) mutation is most frequent in Spain, France, the United Kingdom, Israel and Brazil (5.9–9.7% of all DFNB1 alleles); it is less frequent in the USA, Belgium and Australia (1.3–4.5% of all DFNB1 alleles), and is very rare in Southern Italy, 49 but has been found, present in Northern Italy and in Germany at frequencies similar to those of other European countries. 50,51 The deletion was not found in Austria 52 Turkey 53,54 and China. 55–58 …”

Section: Introductionmentioning

confidence: 95%

The genetic bases for non-syndromic hearing loss among Chinese

et al. 2009

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Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and non-syndromic forms of deafness in the Chinese population are caused by defects in a small number of genes. Studies of the genetic epidemiology and molecular genetic features revealed that there is a clear relevance of genes causing deafness in Chinese deaf patients as well as a unique spectrum of common and rare deafness gene mutations in the Chinese population. This review is focused on the genetic aspects of non-syndromic and mitochondrial deafness, in which unique molecular genetic features of hearing impairment have been identified in the Chinese population. The current China population is approximately 1.3 billion. It is estimated that 30 000 infants are born with congenital sensorineural hearing loss each year. Better understanding of the genetic causes of deafness in the Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

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Occurrence of del( GIB6 -D13S1830) mutation in italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele

Cited by 22 publications

References 0 publications

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

<i>GJB2</i> and <i>GJB6</i> Genes: Molecular Study and Identification of Novel <i>GJB2</i> Mutations in the Hearing-Impaired Argentinean Population

The genetic bases for non-syndromic hearing loss among Chinese

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