A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.

doi:10.1136/jmg.2010.081455

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Article

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.

Journal of medical genetics - 1 Feb 2011

Carvalho Ofélia P, Thornton Gemma K, Hertecant Joseph, Houlden Henry, Nicholas Adeline K, Cox James J, Rielly Mary, Al-Gazali Lihadh, Woods C Geoffrey

Abstract excerpt

BACKGROUND: Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic mutations in the TRKA gene (NTRK1) (HSAN4), share only some clinical features. A...

Topics

Animals
Base Sequence
Blotting, Western
COS Cells
Chlorocebus aethiops
Chromosome Mapping
Enzyme-Linked Immunosorbent Assay
Genotype
Hereditary Sensory and Autonomic Neuropathies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Nerve Growth Factor

PC12 Cells

Pedigree

Rats

Receptor Protein-Tyrosine Kinases

Receptor, trkA

Source

Open in PubMed Open full text

Identifiers

PMID: 20978020
DOI: 10.1136/jmg.2010.081455
PMCID: PMC3030776

Genes

NGF
NTRK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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