Small heat-shock protein 22 mutated in autosomal dominant CMT 2L

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Abstract from Hum Genet. 2004 Nov 23

Small heat-shock protein 22 mutated in autosomal dominant

Charcot-Marie-Tooth disease type 2L.

Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu

XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP.

National Laboratory of Medical Genetics of China, Central South

University, 410078, Changsha, Hunan, People's Republic of China.

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.