The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified...

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मुख्य लेखकों: Meggouh, F, Benomar, A, Rouger, H, Tardieu, S, Birouk, N, Tassin, J, Barhoumi, C, Yahyaoui, M, Chkili, T, Brice, A, LeGuern, E
स्वरूप: लेख
भाषा:English
प्रकाशित: 1998
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051253/
https://ncbi.nlm.nih.gov/pubmed/9541114
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id pubmed-1051253
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spelling pubmed-10512532008-04-11 The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease. Meggouh, F Benomar, A Rouger, H Tardieu, S Birouk, N Tassin, J Barhoumi, C Yahyaoui, M Chkili, T Brice, A LeGuern, E J Med Genet Research Article X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, consisting of a deletion of a G residue at position 499 in the Cx32 open reading frame. This previously unreported mutation produces a frameshift at position 147 in the protein and introduces a premature stop codon (TAG) at nucleotide 643, which results in the production of a truncated Cx32 molecule. This mutation illustrates the risk of an erroneous diagnosis of autosomal recessive CMT, especially in populations where consanguineous unions are frequent, and its consequences for genetic counselling, which can be avoided by molecular analysis. 1998-03 /pmc/articles/PMC1051253/ /pubmed/9541114 Text en
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Research Article
spellingShingle Research Article
Meggouh, F
Benomar, A
Rouger, H
Tardieu, S
Birouk, N
Tassin, J
Barhoumi, C
Yahyaoui, M
Chkili, T
Brice, A
LeGuern, E
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
description X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, consisting of a deletion of a G residue at position 499 in the Cx32 open reading frame. This previously unreported mutation produces a frameshift at position 147 in the protein and introduces a premature stop codon (TAG) at nucleotide 643, which results in the production of a truncated Cx32 molecule. This mutation illustrates the risk of an erroneous diagnosis of autosomal recessive CMT, especially in populations where consanguineous unions are frequent, and its consequences for genetic counselling, which can be avoided by molecular analysis.
author Meggouh, F
Benomar, A
Rouger, H
Tardieu, S
Birouk, N
Tassin, J
Barhoumi, C
Yahyaoui, M
Chkili, T
Brice, A
LeGuern, E
author_facet Meggouh, F
Benomar, A
Rouger, H
Tardieu, S
Birouk, N
Tassin, J
Barhoumi, C
Yahyaoui, M
Chkili, T
Brice, A
LeGuern, E
author_sort Meggouh, F
title The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
title_short The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
title_full The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
title_fullStr The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
title_full_unstemmed The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
title_sort first de novo mutation of the connexin 32 gene associated with x linked charcot-marie-tooth disease.
publishDate 1998
url https://ncbi.nlm.nih.gov/pmc/articles/PMC1051253/
https://ncbi.nlm.nih.gov/pubmed/9541114
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