RGD Reference Report - Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. - Rat Genome Database

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Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Authors: Rotthier, A  Baets, J  De Vriendt, E  Jacobs, A  Auer-Grumbach, M  Levy, N  Bonello-Palot, N  Kilic, SS  Weis, J  Nascimento, A  Swinkels, M  Kruyt, MC  Jordanova, A  De Jonghe, P  Timmerman, V 
Citation: Rotthier A, etal., Brain. 2009 Oct;132(Pt 10):2699-711. Epub 2009 Aug 3.
RGD ID: 5684543
Pubmed: PMID:19651702   (View Abstract at PubMed)
PMCID: PMC2759337   (View Article at PubMed Central)
DOI: DOI:10.1093/brain/awp198   (Journal Full-text)

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP). We performed a systematic mutation screening of the coding sequences of six of these genes on a cohort of 100 familial and isolated patients diagnosed with HSAN. In addition, we screened the functional candidate gene NGFR (p75/NTR) encoding the nerve growth factor receptor. We identified disease-causing mutations in SPTLC1, RAB7, WNK1/HSN2 and NTRK1 in 19 patients, of which three mutations have not previously been reported. The phenotypes associated with mutations in NTRK1 and WNK1/HSN2 typically consisted of congenital insensitivity to pain and anhidrosis, and early-onset ulcero-mutilating sensory neuropathy, respectively. RAB7 mutations were only found in patients with a Charcot-Marie-Tooth type 2B (CMT2B) phenotype, an axonal sensory-motor neuropathy with pronounced ulcero-mutilations. In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. No mutations were found in NGFB, CCT5 and NGFR. Overall disease-associated mutations were found in 19% of the studied patient group, suggesting that additional genes are associated with HSAN. Our genotype-phenotype correlation study broadens the spectrum of HSAN and provides additional insights for molecular and clinical diagnosis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NTRK1Humanhereditary sensory neuropathy  IAGP DNA:mutations: :RGD 
Ntrk1Rathereditary sensory neuropathy  ISONTRK1 (Homo sapiens)DNA:mutations: :RGD 
Ntrk1Mousehereditary sensory neuropathy  ISONTRK1 (Homo sapiens)DNA:mutations: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ntrk1  (neurotrophic receptor tyrosine kinase 1)

Genes (Mus musculus)
Ntrk1  (neurotrophic tyrosine kinase, receptor, type 1)

Genes (Homo sapiens)
NTRK1  (neurotrophic receptor tyrosine kinase 1)


Additional Information