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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-9162

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

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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.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Molecular Genetics
DDC:570 Life sciences; biology
610 Medicine & health
Date:29 March 2009
Deposited On:13 Jan 2009 17:30
Last Modified:21 Jan 2014 12:02
Publisher DOI:10.1111/j.1399-0004.2008.01120.x
Official URL:http://www3.interscience.wiley.com/journal/121543767/abstract
PubMed ID:19067730
Citations:Web of Science®. Times Cited: 1
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Scopus®. Citation Count: 1

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