No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Abstract

Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients.

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

“…13 No mutation was found, however, in the TRKA gene in our patients 7 nor in another patient with HSAN type V. 26 Instead, a homozygotic point mutation (661 C Ͼ T) in exon 3 in a conserved region of the nerve growth factor beta (NGFB) gene was found in our three most severely affected cases 7 (patients 1-3). Thus, a mutation in the NGF gene causes a different, and less severe, phenotype than a mutation in the main NGF receptor, the TRKA gene.…”

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

“…Mutations have previously been identified for autosomal dominant, adult-onset HSAN type I (MIM 162400) (Bejaoui et al 2001;Dawkins et al 2001); for autosomal recessive HSAN type III, also known as "familial dysautonomia/Riley Day syndrome" (MIM 223900) (Anderson et al 2001;Slaugenhaupt et al 2001); and for autosomal recessive HSAN type IV, also called "congenital insensitivity to pain with anhidrosis" (MIM 256800) (Mardy et al 1999). HSAN type V is the least reported of the five disorders and remains somewhat uncertain in phenotypic description and molecular basis (Houlden et al 2001;Toscano et al 2002;Axelrod 2002;Hilz 2002;Einarsdottir et al 2004). Recently, a rare subtype of HSAN type I (type IB) with cough and gastroesophageal reflux has been described and mapped to a novel locus (MIM 608088) (Kok et al 2003).…”

Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation

“…In these patients, cognitive function was also reported to be normal. However, none of the case reports or genetic studies published to date included a structured cognitive evaluation of their patients [10,33,35]. Our results suggest that HSAN type V patients have no cognitive deficits, not even mild ones.…”