Zasady diagnostyki molekularnej w przypadkach klinicznego podejrzenia prelingwalnej, izolowanej postaci głuchoty.

Translated title of the contribution: The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

The GJB2 gene defects are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). Epidemiological data suggest that 35delG is the most prevalent mutation found in 88% of mutated alleles. Another mutations - 313del14 was found in 7% of mutated alleles. The other mutations were identified only in single families. Following the analysis of distribution of GJB2 mutations in the Polish population we propose an algorithm for molecular diagnosis of DFNB1. We propose to screen all patients affected with prelingual non-syndromic deafness for 35delG mutation using ASO or multiplex AS-PCR methods. The presence of 35delG on two alleles confirms DFNB1. The identification of heterozygous 35delG mutation requires additional GJB2 analysis including 313del14 mutation detection and en exon 2 direct sequencing. To determinate the frequency of digenic (GJB2/GJB6) background of DFNB we screened 17 patients with heterozygous 35delG mutation for deletion of 342 kb in GJB6 gene. No such mutation was detected in the analyzed group.

Original languagePolish
Pages (from-to)309-318
Number of pages10
JournalMedycyna wieku rozwojowego
Volume6
Issue number4
StatePublished - 2002
Externally publishedYes

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Hearing Loss
Mutation
Alleles
Sequence Deletion
Multiplex Polymerase Chain Reaction
Deafness
Genes
Exons
Population

Cite this

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title = "Zasady diagnostyki molekularnej w przypadkach klinicznego podejrzenia prelingwalnej, izolowanej postaci głuchoty.",
abstract = "The GJB2 gene defects are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). Epidemiological data suggest that 35delG is the most prevalent mutation found in 88{\%} of mutated alleles. Another mutations - 313del14 was found in 7{\%} of mutated alleles. The other mutations were identified only in single families. Following the analysis of distribution of GJB2 mutations in the Polish population we propose an algorithm for molecular diagnosis of DFNB1. We propose to screen all patients affected with prelingual non-syndromic deafness for 35delG mutation using ASO or multiplex AS-PCR methods. The presence of 35delG on two alleles confirms DFNB1. The identification of heterozygous 35delG mutation requires additional GJB2 analysis including 313del14 mutation detection and en exon 2 direct sequencing. To determinate the frequency of digenic (GJB2/GJB6) background of DFNB we screened 17 patients with heterozygous 35delG mutation for deletion of 342 kb in GJB6 gene. No such mutation was detected in the analyzed group.",
author = "Joanna Wiszniewska and Wojciech Wiszniewski and Jerzy Bal",
year = "2002",
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T1 - Zasady diagnostyki molekularnej w przypadkach klinicznego podejrzenia prelingwalnej, izolowanej postaci głuchoty.

AU - Wiszniewska, Joanna

AU - Wiszniewski, Wojciech

AU - Bal, Jerzy

PY - 2002

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N2 - The GJB2 gene defects are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). Epidemiological data suggest that 35delG is the most prevalent mutation found in 88% of mutated alleles. Another mutations - 313del14 was found in 7% of mutated alleles. The other mutations were identified only in single families. Following the analysis of distribution of GJB2 mutations in the Polish population we propose an algorithm for molecular diagnosis of DFNB1. We propose to screen all patients affected with prelingual non-syndromic deafness for 35delG mutation using ASO or multiplex AS-PCR methods. The presence of 35delG on two alleles confirms DFNB1. The identification of heterozygous 35delG mutation requires additional GJB2 analysis including 313del14 mutation detection and en exon 2 direct sequencing. To determinate the frequency of digenic (GJB2/GJB6) background of DFNB we screened 17 patients with heterozygous 35delG mutation for deletion of 342 kb in GJB6 gene. No such mutation was detected in the analyzed group.

AB - The GJB2 gene defects are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). Epidemiological data suggest that 35delG is the most prevalent mutation found in 88% of mutated alleles. Another mutations - 313del14 was found in 7% of mutated alleles. The other mutations were identified only in single families. Following the analysis of distribution of GJB2 mutations in the Polish population we propose an algorithm for molecular diagnosis of DFNB1. We propose to screen all patients affected with prelingual non-syndromic deafness for 35delG mutation using ASO or multiplex AS-PCR methods. The presence of 35delG on two alleles confirms DFNB1. The identification of heterozygous 35delG mutation requires additional GJB2 analysis including 313del14 mutation detection and en exon 2 direct sequencing. To determinate the frequency of digenic (GJB2/GJB6) background of DFNB we screened 17 patients with heterozygous 35delG mutation for deletion of 342 kb in GJB6 gene. No such mutation was detected in the analyzed group.

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