Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis

Aristotelis Astreinidis, Leena Khare, Thomas Carsillo, Teresa Smolarek, Kit Sing Au, Hope Northrup, Elizabeth Petri Henske

Research output: Contribution to journalArticle

76 Citations (Scopus)

Abstract

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder limited almost exclusively to women of reproductive age. LAM affects about 5% of women with tuberous sclerosis complex (TSC). LAM also occurs in women who do not have TSC (sporadic LAM). TSC is a tumour suppressor gene syndrome characterised by seizures, mental retardation, and tumours in the brain, heart, and kidney. Angiomyolipomas, which are benign tumours with smooth muscle, fat, and dysplastic vascular components, are the most common renal tumour in TSC. Renal angiomyolipomas also occur in 63% of sporadic LAM patients. We recently found that 54% of these angiomyolipomas have TSC2 loss of heterozygosity, leading to the hypothesis that sporadic LAM is genetically related to TSC. In this study, we screened DNA from 21 women with sporadic LAM for mutations in all 41 exons of TSC2. Twelve of the patients had known renal angiomyolipomas. No TSC2 mutations were detected. We did find three silent TSC2 polymorphisms. We conclude that patients with sporadic LAM, including those with renal angiomyolipomas, do not have a high frequency of germline mutations in the coding region of TSC2.

Original languageEnglish (US)
Pages (from-to)55-57
Number of pages3
JournalJournal of Medical Genetics
Volume37
Issue number1
StatePublished - May 18 2000
Externally publishedYes

Fingerprint

Lymphangioleiomyomatosis
Tuberous Sclerosis
Angiomyolipoma
Lung
Genes
Kidney
Smooth Muscle Tumor
Mutation
Germ-Line Mutation
Loss of Heterozygosity
Tumor Suppressor Genes
Brain Neoplasms
Intellectual Disability
Blood Vessels
Exons
Seizures
Fats

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Astreinidis, A., Khare, L., Carsillo, T., Smolarek, T., Au, K. S., Northrup, H., & Henske, E. P. (2000). Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. Journal of Medical Genetics, 37(1), 55-57.

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. / Astreinidis, Aristotelis; Khare, Leena; Carsillo, Thomas; Smolarek, Teresa; Au, Kit Sing; Northrup, Hope; Henske, Elizabeth Petri.

In: Journal of Medical Genetics, Vol. 37, No. 1, 18.05.2000, p. 55-57.

Research output: Contribution to journalArticle

Astreinidis, A, Khare, L, Carsillo, T, Smolarek, T, Au, KS, Northrup, H & Henske, EP 2000, 'Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis', Journal of Medical Genetics, vol. 37, no. 1, pp. 55-57.
Astreinidis, Aristotelis ; Khare, Leena ; Carsillo, Thomas ; Smolarek, Teresa ; Au, Kit Sing ; Northrup, Hope ; Henske, Elizabeth Petri. / Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. In: Journal of Medical Genetics. 2000 ; Vol. 37, No. 1. pp. 55-57.
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