Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
Charcot-Marie-Tooth disease caused by mutations of the myelin protein zero gene demonstrates considerable phenotypical variability. We describe a 45-year-old female with a peripheral neuropathy with demyelinating and axonal features, pes cavus and pupillary light-near dissociation. She was heterozygous for two mutations in the myelin protein zero gene (His81Tyr and Val113Phe), both present on the same allele. Our patient shows a less severe phenotype than previously described patients with a His81Arg mutation. Multiple mutations in the myelin protein zero gene, as well as Charcot-Marie-Tooth with pupillary abnormalities have previously been described in rare instances. However, concurrent occurrence of both phenomena is a novel finding.
Bienfait
H M E
HM
Department of Neurology (H2-222), Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands. h.m.bienfait@amc.uva.nl
Baas
F
F
Gabreëls-Festen
A A W M
AA
Koelman
J H T M
JH
Langerhorst
C T
CT
de Visser
M
M
D000328:Adult; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D009431:Neural Conduction; D010641:Phenotype; D017434:Protein Structure, Tertiary; D011681:Pupil Disorders / Q000209:etiology / Q000235:genetics*; D012025:Reflex, Pupillary
D018993:Myelin P0 Protein