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Updated: Jun 29, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
De-novo mutation in hereditary motor and sensory neuropathy type I
J E Hoogendijk1, G W Hensels, A A Gabreëls-Festen
1Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
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.
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