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Titolo:
A HETEROZYGOUS FRAMESHIFT MUTATION OF THE PTEN MMAC1 GENE IN A PATIENT WITH LHERMITTE-DUCLOS-DISEASE - ONLY THE MUTATED ALLELE WAS EXPRESSED IN THE CEREBELLAR TUMOR/
Autore:
IIDA S; TANAKA Y; FUJII H; HAYASHI S; KIMURA M; NAGAREDA T; MORIWAKI K;
Indirizzi:
MINAMI WAKAYAMA NATL HOSP,TAKINAICHO 27-1 WAKAYAMA 646 JAPAN
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 6, volume: 1, anno: 1998,
pagine: 925 - 929
SICI:
1107-3756(1998)1:6<925:AHFMOT>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
COWDEN DISEASE; INHIBITOR; HAMARTOMA; KINASES; FAMILY; P21;
Keywords:
THE PTEN/MMAC1 GENE; LHERMITTE-DUCLOS DISEASE; CEREBELLAR TUMOR; COWDEN DISEASE; DNA METHYLATION; MONOALLELIC EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
S. Iida et al., "A HETEROZYGOUS FRAMESHIFT MUTATION OF THE PTEN MMAC1 GENE IN A PATIENT WITH LHERMITTE-DUCLOS-DISEASE - ONLY THE MUTATED ALLELE WAS EXPRESSED IN THE CEREBELLAR TUMOR/", INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 1(6), 1998, pp. 925-929

Abstract

Lhermitte-Duclos disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The disease is sometimes associated with multiple hamartoma syndrome, or Cowden disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the PTEN/MMAC1 gene, a gene recently discovered to be a tumor suppressor, have been documented in four families with Cowden disease. A family member in one of these families have had Lhermitte-Duclos disease, indicating that mutations of the gene are responsible for the development of Lhermitte-Duclos disease. However, the occurrence of Lhermitte-Duclos disease is mostly sporadic. It is unknown whether the PTEN/MMAC1 gene is involved in these cases. We performed a genetic analysis on a patient with Lhermitte-Duclos disease, as well as analyses on his family members, and found a germline mutation of the PTEN/MMAC1 gene. An insertion of A at nucleotide 83 in codon 28 was apparent in both the patient and members of his family. This mutation caused a frame shift that generated a premature stop codon in codon 43. The mutation was heterozygous, although only the mutated allele was expressedin the cerebellar tumor of the patient. A monoallelic expression of the mutated PTEN/MMAC1 gene may have been responsible for the development of a cerebellar tumor in the patient.

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Documento generato il 02/12/20 alle ore 14:39:10