Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Hdl Handle:
http://hdl.handle.net/10147/254558
Title:
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Authors:
Davidson, G L; Murphy, S M; Polke, J M; Laura, M; Salih, M A M; Muntoni, F; Blake, J; Brandner, S; Davies, N; Horvath, R; Price, S; Donaghy, M; Roberts, M; Foulds, N; Ramdharry, G; Soler, D; Lunn, M P; Manji, H; Davis, M B; Houlden, H; Reilly, M M
Affiliation:
Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK. gd339@cam.ac.uk
Citation:
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 2012, 259 (8):1673-85 J. Neurol.
Publisher:
Journal of neurology
Journal:
Journal of neurology
Issue Date:
Aug-2012
URI:
http://hdl.handle.net/10147/254558
DOI:
10.1007/s00415-011-6397-y
PubMed ID:
22302274
Abstract:
The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have been identified as causing HSAN. To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. We identified 25 index patients with mutations in six genes associated with HSAN (SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 and NGFB); 20 of which appear to be pathogenic giving an overall mutation frequency of 14.3%. Mutations in the known genes for HSAN are rare suggesting that further HSAN genes are yet to be identified. The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN.
Item Type:
Article
Language:
en
ISSN:
1432-1459

Full metadata record

DC FieldValue Language
dc.contributor.authorDavidson, G Len_GB
dc.contributor.authorMurphy, S Men_GB
dc.contributor.authorPolke, J Men_GB
dc.contributor.authorLaura, Men_GB
dc.contributor.authorSalih, M A Men_GB
dc.contributor.authorMuntoni, Fen_GB
dc.contributor.authorBlake, Jen_GB
dc.contributor.authorBrandner, Sen_GB
dc.contributor.authorDavies, Nen_GB
dc.contributor.authorHorvath, Ren_GB
dc.contributor.authorPrice, Sen_GB
dc.contributor.authorDonaghy, Men_GB
dc.contributor.authorRoberts, Men_GB
dc.contributor.authorFoulds, Nen_GB
dc.contributor.authorRamdharry, Gen_GB
dc.contributor.authorSoler, Den_GB
dc.contributor.authorLunn, M Pen_GB
dc.contributor.authorManji, Hen_GB
dc.contributor.authorDavis, M Ben_GB
dc.contributor.authorHoulden, Hen_GB
dc.contributor.authorReilly, M Men_GB
dc.date.accessioned2012-12-05T11:52:03Z-
dc.date.available2012-12-05T11:52:03Z-
dc.date.issued2012-08-
dc.identifier.citationFrequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 2012, 259 (8):1673-85 J. Neurol.en_GB
dc.identifier.issn1432-1459-
dc.identifier.pmid22302274-
dc.identifier.doi10.1007/s00415-011-6397-y-
dc.identifier.urihttp://hdl.handle.net/10147/254558-
dc.description.abstractThe hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. To date, mutations in twelve genes have been identified as causing HSAN. To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB. We identified 25 index patients with mutations in six genes associated with HSAN (SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 and NGFB); 20 of which appear to be pathogenic giving an overall mutation frequency of 14.3%. Mutations in the known genes for HSAN are rare suggesting that further HSAN genes are yet to be identified. The p.Cys133Trp mutation in SPTLC1 is the most common cause of HSAN in the UK population and should be screened first in all patients with sporadic or autosomal dominant HSAN.en_GB
dc.language.isoenen
dc.publisherJournal of neurologyen_GB
dc.rightsArchived with thanks to Journal of neurologyen_GB
dc.titleFrequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.en_GB
dc.typeArticleen
dc.contributor.departmentNeurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK. gd339@cam.ac.uken_GB
dc.identifier.journalJournal of neurologyen_GB
dc.description.provinceLeinsteren

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