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Titolo:
Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type I and HNPP patients
Autore:
Bissar-Tadmouri, N; Parman, Y; Boutrand, L; Deymeer, F; Serdaroglu, P; Vandenberghe, A; Battaloglu, E;
Indirizzi:
Bogazici Univ, Dept Mol Biol & Genet, TR-80815 Bebek, Turkey Bogazici Univ Bebek Turkey TR-80815 Biol & Genet, TR-80815 Bebek, Turkey Univ Istanbul, Sch Med, Dept Neurol, Istanbul, Turkey Univ Istanbul Istanbul Turkey l, Sch Med, Dept Neurol, Istanbul, Turkey Univ Lyon 1, Fac Pharm, Human Mol Genet Lab, F-69008 Lyon, France Univ Lyon 1 Lyon France F-69008 uman Mol Genet Lab, F-69008 Lyon, France
Titolo Testata:
CLINICAL GENETICS
fascicolo: 5, volume: 58, anno: 2000,
pagine: 396 - 402
SICI:
0009-9163(200011)58:5<396:MAAGCI>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
PERIPHERAL MYELIN PROTEIN-22; DEJERINE-SOTTAS-DISEASE; HEREDITARY NEUROPATHY; PRESSURE PALSIES; PMP22 GENE; POINT MUTATION; CHROMOSOME 17P11.2; CONNEXIN-32 GENE; DUPLICATION; LIABILITY;
Keywords:
CMT1; Cx32; frameshift mutation; HNPP; PMP22; point mutation; polymorphism; Turkey;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Battaloglu, E Bogazici Univ, Dept Mol Biol & Genet, TR-80815 Bebek, TurkeyBogazici Univ Bebek Turkey TR-80815 TR-80815 Bebek, Turkey
Citazione:
N. Bissar-Tadmouri et al., "Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type I and HNPP patients", CLIN GENET, 58(5), 2000, pp. 396-402

Abstract

The major Charcot-Marie-Tooth Type 1 (CMT1) locus, CMT1A, and Hereditary neuropathy with liability to pressure palsies (HNPP) cosegregate with a 1.5-Mb duplication and a 1.5-Mb deletion, respectively, in band 17p11.2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion. We have screened 54 CMT1 patients, of variable clinical severity, and 25 HNPP patients from Turkey, with no duplication or deletion, for mutations in the PMP22 and Cx32 genes. A novel frameshift mutation affecting the second extracellular domain of PMP22 was found in an HNPP patient, while a point mutation in the second transmembrane domain of the protein was detected in a CMT1 patient. Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. Another patient was found to carry a polymorphism in a non-conserved codon of the Cx32 gene. The clinical phenotypes of the patients correlate well with the effect of the mutation on the protein.

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Documento generato il 23/09/20 alle ore 13:17:48