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Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype
Author(s) -
Taioli Federica,
Bertolasi Laura,
Ajena Domenico,
Ferrarini Moreno,
Cabrini Ilaria,
Crestanello Alberto,
Fabrizi Gian Maria
Publication year - 2012
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/j.1529-8027.2012.00441.x
Subject(s) - missense mutation , pes cavus , genetics , phenotype , medicine , sural nerve , allele , mutation , asymptomatic , pathology , biology , gene , complication
Genetic germinal and somatic mosaicisms of dominant Charcot‐Marie‐Tooth disease ( CMT ) mutations are rarely reported and/or recognized. We describe a novel heterozygous p. Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 ( PMP22 ) associated with an early‐onset demyelinating CMT type 1 E ( CMT1E ) in two siblings born from asymptomatic non‐consanguineous parents. The 29‐year‐old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy ( pes cavus , decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials ( SNAPs ). Authors suggest that mutations of CMT ‐related genes which originate in post‐zygotic stages may be associated with mild phenotypes of peripheral neuropathy.