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

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 H MSN I,...

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Veröffentlicht in:The Lancet (British edition) 1992-05, Vol.339 (8801), p.1081-1082
Hauptverfasser: Hoogendijk, J.E., Hensels, G.W., Janssen, E.A.M., Valentijn, L.J., Baas, F., de Visser, M., Bolhuis, P.A., Gabreels-Festen, A.A.W.M., Gabreels, F.J.M., de onghe, P., Martin, J.-J., van Broeckhoven, C.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Biological and medical sciences
Charcot-Marie-Tooth Disease - genetics
Child
Chromosome Aberrations - diagnosis
Chromosome Disorders
Chromosomes, Human, 16-18
Female
Genetic screening
Genetics
Humans
Male
Medical research
Medical sciences
Multigene Family - genetics
Mutation
Neurological disorders
Neurology
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Beschreibung
Zusammenfassung: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 H MSN 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. Lancet 1992; 339: 1081-82.
ISSN:0140-6736
1474-547X
DOI:10.1016/0140-6736(92)90668-S