Linked Life Data

11668614

Source:http://linkedlifedata.com/resource/pubmed/id/11668614

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-10-22
pubmed:abstractText
Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on chromosome 1q21-q22 encodes the receptor tyrosine kinase for nerve growth factor. We reported that TRKA is the gene responsible for CIPA and we developed a comprehensive strategy to screen for TRKA mutations and polymorphisms, as based on the gene's structure and organization. Here we report eight novel mutations detected as either a homozygous or heterozygous state in nine CIPA families from five countries. Mendelian inheritance of the mutations was confirmed in seven families for which samples from either parent were available. However, non-mendelian inheritance seems likely for the family when only samples from the mother and siblings, (but not from the father) were available. A paternal uniparental disomy for chromosome 1 is likely to be the cause of reduction to homozygosity of the TRKA gene mutation in this family. Interestingly, a Hispanic patient from the USA has two autosomal genetic disorders, CIPA and pyruvate kinase deficiency, whose genetic loci are both mapped to a closely linked chromosomal region. A splice mutation and a missense mutation were detected in the TRKA and PKLR genes from the homozygous proband, respectively. Thus, concomitant occurrence of two disorders is ascribed to a combination of two separate mutant genes, not a contiguous gene syndrome. This finding suggests a mechanism responsible for two autosomal genetic disorders in one patient. All these data further support findings that TRKA defects can cause CIPA in various ethnic groups. This will aid in diagnosis and genetic counseling of this painless but severe genetic disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1098-1004
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
308-18
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:11668614-Adolescent, pubmed-meshheading:11668614-Adult, pubmed-meshheading:11668614-Alleles, pubmed-meshheading:11668614-Child, pubmed-meshheading:11668614-Child, Preschool, pubmed-meshheading:11668614-Chromosome Mapping, pubmed-meshheading:11668614-Chromosomes, Human, Pair 1, pubmed-meshheading:11668614-DNA Mutational Analysis, pubmed-meshheading:11668614-Female, pubmed-meshheading:11668614-Genetic Linkage, pubmed-meshheading:11668614-Haplotypes, pubmed-meshheading:11668614-Hereditary Sensory and Autonomic Neuropathies, pubmed-meshheading:11668614-Humans, pubmed-meshheading:11668614-Infant, pubmed-meshheading:11668614-Infant, Newborn, pubmed-meshheading:11668614-Male, pubmed-meshheading:11668614-Mutation, pubmed-meshheading:11668614-Pedigree, pubmed-meshheading:11668614-Polymorphism, Genetic, pubmed-meshheading:11668614-Pyruvate Kinase, pubmed-meshheading:11668614-Receptor, trkA, pubmed-meshheading:11668614-Uniparental Disomy
pubmed:year
2001
pubmed:articleTitle
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
pubmed:affiliation
Department of Pediatrics, Kumamoto University School of Medicine, Kumamoto, Japan. yindo@kaiju.medic.kumamoto-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't