Identification of PATCHED mutations in medulloblastomas by direct sequencing.

Jianli Dong, M. R. Gailani, S. L. Pomeroy, D. Reardon, A. E. Bale

Research output: Contribution to journalArticle

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Abstract

Medulloblastoma is the most common malignant embryonic tumors of the central nervous system. The nevoid basal cell carcinoma syndrome (NBCCS), which is caused by mutations of PTCH gene on chromosome 9q22, accounts for about 2% of all medulloblastomas. Previous studies of PTCH in sporadic medulloblastomas using single strand conformational polymorphism (SSCP) detected mutations in about 10% of the tumors. In this study, we directly sequenced the PTCH gene in 20 sporadic medulloblastoma DNA samples. A nonsense mutation (Q694X) and a splice site alteration (2875+1G>A) were identified in two of the samples. The mutations are predicted to result in a truncated PTCH protein and aberrant splicing, respectively. In both cases, only the mutant alleles were identified, indicating that the mutations were associated with loss of the wild-type PTCH allele in the tumor cells. Several novel variants, including 1653T>C, 1672C>T, and 2292C>T, were also found in these tumor samples. One of the two mutations detected in this study had been missed by SSCP, suggesting that the true rate of PTCH mutations in sporadic medulloblastomas may be underestimated by SSCP screening. Nevertheless, the frequency of mutations in this study did not differ from previous reports. Copyright Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)89-90
Number of pages2
JournalHuman Mutation
Volume16
Issue number1
StatePublished - Jul 2000
Externally publishedYes

Fingerprint

Medulloblastoma
Mutation
Mutation Rate
Alleles
Protein Splicing
Basal Cell Nevus Syndrome
Central Nervous System Neoplasms
Neoplasms
Nonsense Codon
Genes
Chromosomes
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dong, J., Gailani, M. R., Pomeroy, S. L., Reardon, D., & Bale, A. E. (2000). Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation, 16(1), 89-90.

Identification of PATCHED mutations in medulloblastomas by direct sequencing. / Dong, Jianli; Gailani, M. R.; Pomeroy, S. L.; Reardon, D.; Bale, A. E.

In: Human Mutation, Vol. 16, No. 1, 07.2000, p. 89-90.

Research output: Contribution to journalArticle

Dong, J, Gailani, MR, Pomeroy, SL, Reardon, D & Bale, AE 2000, 'Identification of PATCHED mutations in medulloblastomas by direct sequencing.', Human Mutation, vol. 16, no. 1, pp. 89-90.
Dong J, Gailani MR, Pomeroy SL, Reardon D, Bale AE. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation. 2000 Jul;16(1):89-90.
Dong, Jianli ; Gailani, M. R. ; Pomeroy, S. L. ; Reardon, D. ; Bale, A. E. / Identification of PATCHED mutations in medulloblastomas by direct sequencing. In: Human Mutation. 2000 ; Vol. 16, No. 1. pp. 89-90.
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