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Severe phenotype with cis-acting heterozygous PMP22 mutations


Niedrist, D; Joncourt, F; Matyas, G; Müller, A (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75(3):286-289.

Abstract

We report on a 20-year-old male with severe Charcot–Marie–Tooth(CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C.T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein–Barr virus-transformed
lymphoblastoid cells of our patient. His clinical findings included early onset of polyneuropathy, loss of muscle mass with distal pareses, hammer toes, and progressive scoliosis. There was no neuropsychological alteration. Our results suggest that the deletion c.281delG alone is
responsible for the severe CMT phenotype. To the best of our knowledge, this is the second report on a proven paternal origin of a de novo single-base mutation in the PMP22 gene.

Abstract

We report on a 20-year-old male with severe Charcot–Marie–Tooth(CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C.T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein–Barr virus-transformed
lymphoblastoid cells of our patient. His clinical findings included early onset of polyneuropathy, loss of muscle mass with distal pareses, hammer toes, and progressive scoliosis. There was no neuropsychological alteration. Our results suggest that the deletion c.281delG alone is
responsible for the severe CMT phenotype. To the best of our knowledge, this is the second report on a proven paternal origin of a de novo single-base mutation in the PMP22 gene.

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3 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Molecular Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:29 March 2009
Deposited On:13 Jan 2009 17:30
Last Modified:05 Apr 2016 12:46
Publisher:Wiley-Blackwell
ISSN:0009-9163
Publisher DOI:https://doi.org/10.1111/j.1399-0004.2008.01120.x
Official URL:http://www3.interscience.wiley.com/journal/121543767/abstract
PubMed ID:19067730

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