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Titolo:
Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRK4 (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
Autore:
Indo, Y; Mardy, S; Miura, Y; Moosa, A; Ismail, EAR; Toscano, E; Andria, G; Pavone, V; Brown, DL; Brooks, A; Endo, F; Matsuda, I;
Indirizzi:
Kumamoto Univ, Sch Med, Dept Pediat, Kumamoto 8608556, Japan Kumamoto Univ Kumamoto Japan 8608556 ept Pediat, Kumamoto 8608556, Japan Kuwait Univ, Fac Med, Dept Pediat, Safat, Kuwait Kuwait Univ Safat Kuwait wait Univ, Fac Med, Dept Pediat, Safat, Kuwait Farwaniya Hosp, Dept Pediat, Salmiya, Kuwait Farwaniya Hosp Salmiya Kuwait waniya Hosp, Dept Pediat, Salmiya, Kuwait Univ Naples Federico II, Dept Pediat, Naples, Italy Univ Naples Federico II Naples Italy ico II, Dept Pediat, Naples, Italy Univ Catania, Orthoped Clin, I-95124 Catania, Italy Univ Catania CataniaItaly I-95124 Orthoped Clin, I-95124 Catania, Italy Childrens Mem Hosp, Chicago, IL 60614 USA Childrens Mem Hosp Chicago IL USA 60614 s Mem Hosp, Chicago, IL 60614 USA Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands
Titolo Testata:
HUMAN MUTATION
fascicolo: 4, volume: 18, anno: 2001,
pagine: 308 - 318
SICI:
1059-7794(2001)18:4<308:CITPWA>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
NERVE GROWTH-FACTOR; HIGH-AFFINITY RECEPTOR; TYROSINE KINASE; NEUROTROPHIN RECEPTORS; CHROMOSOME-1; ISODISOMY; PATIENT;
Keywords:
congenital insensitivity to pain with anhidrosis; CIPA; TRKA; NTRK1; nerve growth factor; NGF; receptor tyrosine kinase; PKLR; hereditary sensory and autonomic neuropathy; type IV; HSAN-IV; pyruvate kinase deficiency;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Indo, Y Kumamoto Univ, Sch Med, Dept Pediat, Honjo 1-1-1, Kumamoto 8608556, Japan Kumamoto Univ Honjo 1-1-1 Kumamoto Japan 8608556 o 8608556, Japan
Citazione:
Y. Indo et al., "Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRK4 (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", HUM MUTAT, 18(4), 2001, pp. 308-318

Abstract

Congenital insensitivity to pain with anhidrosis is an autosomal recessivehereditary 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 growthfactor. 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 eightnovel 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, none 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 autosomalgenetic disorders, CIPA and pyruvate kinase deficiency, whose genetic lociare 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. Hum Mutat 18:308-318, 2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 23/10/20 alle ore 13:19:01