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.

  • Authors:
    • S Iida
    • Y Tanaka
    • H Fujii
    • S Hayashi
    • M Kimura
    • T Nagareda
    • K Moriwaki
  • View Affiliations

  • Published online on: June 1, 1998     https://doi.org/10.3892/ijmm.1.6.925
  • Pages: 925-934
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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 expressed in 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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Jun 1998
Volume 1 Issue 6

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Iida S, Tanaka Y, Fujii H, Hayashi S, Kimura M, Nagareda T and Moriwaki K: 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.. Int J Mol Med 1: 925-934, 1998.
APA
Iida, S., Tanaka, Y., Fujii, H., Hayashi, S., Kimura, M., Nagareda, T., & Moriwaki, K. (1998). 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, 925-934. https://doi.org/10.3892/ijmm.1.6.925
MLA
Iida, S., Tanaka, Y., Fujii, H., Hayashi, S., Kimura, M., Nagareda, T., Moriwaki, K."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): 925-934.
Chicago
Iida, S., Tanaka, Y., Fujii, H., Hayashi, S., Kimura, M., Nagareda, T., Moriwaki, K."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, no. 6 (1998): 925-934. https://doi.org/10.3892/ijmm.1.6.925