A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis

A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of Japan. We found a novel point mutation at nucleotide 1825 (A→G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon

Asian Copyright Handbook : Buku Panduan Hak Cipta Asia Versi Indonesia

xxii,112 hal.;ill.;21 c

Asian copyright handbook indonesian version

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Asian copyright handbook indonesian version Buku panduan hak cipta asia

Jakartaxxii, 112 p, 21 cm

Asian Coppyright Handbook Indonesia Version. : Buku Panduan Hak Cipta Asia Versi Indonesia.

Jakartaxxii, 112 p, 21 cm

Asian copyright handbook = buku panduan hak cipta Asia versi Indonesia/ Hozumi

xxii, 112 hal.: ill.; 21 cm