De-novo mutation in hereditary motor and sensory neuropathy type I

J E Hoogendijk; G W Hensels; A A Gabreëls-Festen; F J Gabreëls; E A Janssen; P de Jonghe; J J Martin; C van Broeckhoven; L J Valentijn; F Baas

De-novo mutation in hereditary motor and sensory neuropathy type I

J E Hoogendijk, G W Hensels, A A Gabreëls-Festen, F J Gabreëls, E A Janssen, P de Jonghe, J J Martin, C van Broeckhoven, L J Valentijn, F Baas

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	1081-2
Number of pages	2
Journal	The Lancet
Volume	339
Issue number	8801
Publication status	Published - 1992

Keywords

Adolescent
Adult
Charcot-Marie-Tooth Disease
Child
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, 16-18
Female
Humans
Male
Multigene Family
Mutation
Journal Article
Research Support, Non-U.S. Gov't

Cite this

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title = "De-novo mutation in hereditary motor and sensory neuropathy type I",

abstract = "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.",

keywords = "Adolescent, Adult, Charcot-Marie-Tooth Disease, Child, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, 16-18, Female, Humans, Male, Multigene Family, Mutation, Journal Article, Research Support, Non-U.S. Gov't",

author = "Hoogendijk, {J E} and Hensels, {G W} and Gabre{\"e}ls-Festen, {A A} and Gabre{\"e}ls, {F J} and Janssen, {E A} and {de Jonghe}, P and Martin, {J J} and {van Broeckhoven}, C and Valentijn, {L J} and F Baas",

year = "1992",

language = "English",

volume = "339",

pages = "1081--2",

journal = "The Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "8801",

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TY - JOUR

T1 - De-novo mutation in hereditary motor and sensory neuropathy type I

AU - Hoogendijk, J E

AU - Hensels, G W

AU - Gabreëls-Festen, A A

AU - Gabreëls, F J

AU - Janssen, E A

AU - de Jonghe, P

AU - Martin, J J

AU - van Broeckhoven, C

AU - Valentijn, L J

AU - Baas, F

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Charcot-Marie-Tooth Disease

KW - Child

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, 16-18

KW - Female

KW - Humans

KW - Male

KW - Multigene Family

KW - Mutation

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

M3 - Article

C2 - 1349106

SN - 0140-6736

VL - 339

SP - 1081

EP - 1082

JO - The Lancet

JF - The Lancet

IS - 8801

ER -

De-novo mutation in hereditary motor and sensory neuropathy type I

Abstract

Keywords

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