Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene

Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self‐ mutilating behavior, anhidrosis, and recurrent episode...

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Bibliographic Details
Published in:Clinical genetics 2009-03, Vol.75 (3), p.230-236
Main Authors: Suriu, C, Khayat, M, Weiler, M, Kfir, N, Cohen, C, Zinger, A, Aslanidis, C, Schmitz, G, Falik-Zaccai, TC
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Child
CIPA
Congenital diseases
Dermatology
Family
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
hereditary sensory and autonomic neuropathy type IV
Humans
Hypohidrosis - genetics
Jewish people
Jews - genetics
Male
Medical genetics
Medical sciences
Minority & ethnic groups
Molecular and cellular biology
Morocco
Mutation
Neurological disorders
NGF
NTRK1 mutation
Pain Insensitivity, Congenital - ethnology
Pain Insensitivity, Congenital - genetics
Pedigree
Population genetics
Receptor, trkA - genetics
Skin involvement in other diseases. Miscellaneous. General aspects
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Summary:Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self‐ mutilating behavior, anhidrosis, and recurrent episodes of hyperthermia. Mutations in the neurotrophic tyrosine kinase receptor 1, a receptor phosphorylated by nerve growth factor, have been documented in diverse ethnic groups. We identified the same novel nonsense mutation in two unrelated families of Moroccan Jewish descent, each with two affected siblings. This possible founder mutation may trace to the rural Jewish village in southern Morocco from where both these families originated. Genetic screening for the causative mutation among 300 unrelated Moroccan Jews did not reveal carriers for the causative mutation, thus excluding high risk for CIPA in this ethnic subpopulation.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2008.01143.x