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.
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|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
|Date:||29 March 2009|
|Deposited On:||13 Jan 2009 17:30|
|Last Modified:||21 Jan 2014 12:02|
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