Short Communication
PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France

https://doi.org/10.1006/mcpr.2000.0335Get rights and content

Abstract

Mutations in the gene encoding connexin 26 (Cx26) have been shown to be a major cause of non-syndromic recessive deafness (NSRD), and a single mutation 35delG in the Cx26 gene accounts for the majority of NSRD in different European populations. To screen for this mutation we developed an easier and more reliable method based on the principle of PCR mutation-specific primers. We tested 512 French neonates using dried blood spots for heterozygosity of the 35delG mutation and found a carrier frequency of 2·73%. As our test detects a mutation responsible for a significant part of NSRD, it may find widespread use in DNA diagnostics.

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Cited by (35)

  • Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss

    2012, International Journal of Pediatric Otorhinolaryngology
    Citation Excerpt :

    The frequency of mutations may vary between countries or even within different ethnic groups of a particular country. For example, the prevalence of GJB2 mutations in Slovakia is 45.6 [21], France 39.8 [22], Turkey 25% [23], Pakistan 6.1% [24] and 0% in Oman [25]. The Iranian population is composed of many different ethnic groups, so it is important to generate ethnic specific data.

  • Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China

    2012, International Journal of Pediatric Otorhinolaryngology
    Citation Excerpt :

    More than 150 unique nonsyndromic GJB2 gene variants have been described, however the mutational hotspots of GJB2 are known to have the ethnic specificity of the population. The 35delG, 167delT and 235delC mutations are most frequent in the Caucasian, Jewish and Asian populations, respectively [4,6,11,12]. In addition, other genes encoding connexin, such as GJB6 for Cx30, GJB3 for Cx31, GJA1 for Cx43 and GJB1 for Cx32 have been identified as the molecular etiology for hearing loss [13–16], but the ethnetic specificity of these genes in hearing loss is lacking.

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

    2010, International Journal of Pediatric Otorhinolaryngology
    Citation Excerpt :

    The mutation spectrum in GJB2 varies substantially among populations different ethnic backgrounds. Thus, c.35delG is common among Caucasian individuals (carrier frequency of 0.5–4%) [9–12]; c.167delT in Ashkenazi Jews (4% carrier frequency) [13]; c.235delC in the Japanese (1–2% carrier frequency) [14], and p.V37I in the Taiwanese population (11.6% carrier frequency) [15]. A 309 kb deletion involving the GJB6 gene, named del(GJB6-D13S1830) [16,17], is the second most frequent mutation causing prelingual deafness in the Spanish population [17].

  • Enhancing allele-specific PCR for specifically detecting short deletion and insertion DNA mutations

    2010, Molecular and Cellular Probes
    Citation Excerpt :

    Many algorithms have been developed to optimize the specificity of AS-PCR [8–10]. Also, AS-PCR has shown some success in detecting short deletion or insertion, but it requires different primer design strategies for forming primer–template mismatches, which vary from one to several base-pairs [2,11–14]. To simplify the design, forming a multiple base-pair mismatch in AS-PCR is often desired because it enables greater specificity than does a single base-pair mismatch [2,7].

  • GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation

    2007, International Journal of Pediatric Otorhinolaryngology
    Citation Excerpt :

    Indeed, the 35delG mutation represents 95.2% in Greece [23], 93.1% in Slovakia [19], 86.7% in Finland [26] and 82.8% in the Czech Republic [21]. In addition, we found a high carrier frequency of the 35delG mutation in the Moroccan population (2.65%), which is comparable to that found in Mediterranean populations with 2.73% in France [27], 2.31% in Spain [28], 2.33% in Lebanon [24] and 2.47% in Greek Cypriots [29]. The high frequency of the 35delG mutation has been explained by mutational hot spot, founder effect or presence of assortative mating.

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Author to whom all correspondence should be addressed at: Laboratoire LCL, 78 avenue de Verdun, 94200, Ivry-sur-Seine, France. Tel: +39 72 71 06; Fax: +39 72 79 27.

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