TY - JOUR
T1 - Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli- Bedouins
T2 - Genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies
AU - Shatzky, Sharon
AU - Moses, Shimon
AU - Levy, Jacov
AU - Pinsk, Vered
AU - Hershkovitz, Eli
AU - Herzog, Laura
AU - Shorer, Zamir
AU - Luder, Anthony
AU - Parvari, Ruti
PY - 2000/6/19
Y1 - 2000/6/19
N2 - Congenital insensitivity to pain with anhidrosis (CIPA), a rare and severe disorder, comprises absence of sensation to noxious stimuli, inability to sweat, and recurrent episodes of hyperthermia. It has a relatively high prevalence in the consanguineous Israeli-Bedouins. Clinical studies of 28 patients are reported here. Using the linkage analysis approach, we linked the disease in 9 of 10 unrelated Israeli-Bedouin families with CIPA to the TrkA gene, which encodes the receptor for nerve growth factor. In one family, linkage was excluded, implying that another gene, yet unidentified, is involved. Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel. Eight prenatal diagnoses were made in the southern Israeli-Negev Bedouins, two by linkage analysis and six by checking directly for the 1926-ins-T mutation. Three polymorphisms in the TrkA protein kinaseencoding domain were also observed. (C) 2000 Wiley-Liss, Inc.
AB - Congenital insensitivity to pain with anhidrosis (CIPA), a rare and severe disorder, comprises absence of sensation to noxious stimuli, inability to sweat, and recurrent episodes of hyperthermia. It has a relatively high prevalence in the consanguineous Israeli-Bedouins. Clinical studies of 28 patients are reported here. Using the linkage analysis approach, we linked the disease in 9 of 10 unrelated Israeli-Bedouin families with CIPA to the TrkA gene, which encodes the receptor for nerve growth factor. In one family, linkage was excluded, implying that another gene, yet unidentified, is involved. Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel. Eight prenatal diagnoses were made in the southern Israeli-Negev Bedouins, two by linkage analysis and six by checking directly for the 1926-ins-T mutation. Three polymorphisms in the TrkA protein kinaseencoding domain were also observed. (C) 2000 Wiley-Liss, Inc.
KW - Bedouins
KW - Congenital insensitivity to pain with anhidrosis
KW - Genetic heterogeneity
KW - Linkage analysis
KW - Prenatal diagnosis
KW - TrkA mutations
UR - http://www.scopus.com/inward/record.url?scp=0034686512&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C
DO - 10.1002/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C
M3 - Article
C2 - 10861667
AN - SCOPUS:0034686512
SN - 0148-7299
VL - 92
SP - 353
EP - 360
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -