TY - JOUR
T1 - A novel NF-L mutation pro22ser is associated with CMT2 in a large Slovenian family
AU - Georgiou, Domna Maria
AU - Zidar, Janez
AU - Korošec, Marko
AU - Middleton, Lefkos T.
AU - Kyriakides, Theodoros
AU - Christodoulou, Kyproula
PY - 2002/10
Y1 - 2002/10
N2 - Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARC-MT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.
AB - Charcot-Marie-Tooth (CMT) disease is the most-common form of inherited motor and sensory neuropathy. The autosomal dominant axonal form of the disease (CMT2) is currently subdivided into seven types based on genetic localization. These are CMT2A (1p35-p36), CMT2B (3q13-q22), CMT2C (unknown), CMT2D (7p14), CMT2E (8p21), HMNSP (3q13.1), and CMT2F (7q11-q21). Two loci have thus far been identified for autosomal recessive CMT2; ARCMT2A (1q21.1-q21.3) and ARC-MT2B (19q13.3). Mutations in four genes (connexin 32, myelin protein zero, neurofilament-light, and kinesin) have been associated with the CMT2 phenotype. We identified a novel neurofilament-light missense mutation (C64T) that causes the disease in a large Slovenian CMT2 family. This novel mutation shows complete co-segregation with the dominantly inherited CMT2 phenotype in our family.
KW - Charcot-Marie-Tooth
KW - CMT2
KW - Novel neurofilament-light mutation
UR - http://www.scopus.com/inward/record.url?scp=0036819173&partnerID=8YFLogxK
U2 - 10.1007/s10048-002-0138-4
DO - 10.1007/s10048-002-0138-4
M3 - Article
C2 - 12481988
AN - SCOPUS:0036819173
SN - 1364-6745
VL - 4
SP - 93
EP - 96
JO - Neurogenetics
JF - Neurogenetics
IS - 2
ER -