Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G-->T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
Tang
Bei-sha
BS
National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People's Republic of China. bstang7398@yahoo.com.cn
Zhao
Guo-hua
GH
Luo
Wei
W
Xia
Kun
K
Cai
Fang
F
Pan
Qian
Q
Zhang
Ru-xu
RX
Zhang
Fu-feng
FF
Liu
Xiao-min
XM
Chen
Biao
B
Zhang
Cheng
C
Shen
Lu
L
Jiang
Hong
H
Long
Zhi-gao
ZG
Dai
He-ping
HP
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005799:Genes, Dominant; D006360:Heat-Shock Proteins; D006801:Humans; D018832:Molecular Chaperones; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C413214:HSPB8 protein, human; D006360:Heat-Shock Proteins; D018832:Molecular Chaperones; D017346:Protein Serine-Threonine Kinases