Suriu, C. and Khayat, M. and Weiler, M. and Kfir, N. and Cohen, C. and Zinger, A. and Aslanidis, C. and Schmitz, G. and Falik-Zaccai, T. C. (2009) Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. CLINICAL GENETICS, 75 (3). pp. 230-236. ISSN 0009-9163, 1399-0004
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Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC. Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.Clin Genet 2009: 75: 230-236. (C) Blackwell Munksgaard, 2008 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NERVE GROWTH-FACTOR; NEUROPATHY TYPE-IV; RECEPTOR TYROSINE KINASE; CIPA; MANIFESTATIONS; INNERVATION; INVOLVEMENT; MECHANISMS; FRAMESHIFT; ANHYDROSIS; CIPA; hereditary sensory and autonomic neuropathy type IV; MJ; NGF; NTRK1 mutation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 21 Sep 2020 12:48 |
| Last Modified: | 21 Sep 2020 12:48 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29337 |
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