De-novo mutation in hereditary motor and sensory neuropathy type I.
Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for genetic counselling of isolated patients with HMSN I.
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
J E
JE
Hoogendijk
G W
GW
Hensels
A A
AA
Gabreëls-Festen
F J
FJ
Gabreëls
E A
EA
Janssen
P
P
de Jonghe
J J
JJ
Martin
C
C
van Broeckhoven
L J
LJ
Valentijn
F
F
Baas
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008297:Male; D005810:Multigene Family / Q000235:genetics; D009154:Mutation