Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Phillip T. Brook-Carter, Belén Peral, Christopher J. Ward, Peter Thompson, Jim Hughes, Magitha M. Maheshwar, Mark Nellist, Vicki Gamble, Peter C. Harris, Julian R. Sampson

Research output: Contribution to journalArticle

354 Scopus citations

Abstract

Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chomosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the cystic changes, is seen in a small proportion of cases. We have identified large deletions disrupting TSC2 and PKD1 in each of six such cases studied. Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.

Original languageEnglish (US)
Pages (from-to)328-332
Number of pages5
JournalNature Genetics
Volume8
Issue number4
DOIs
StatePublished - Dec 1994

ASJC Scopus subject areas

  • Genetics

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    Brook-Carter, P. T., Peral, B., Ward, C. J., Thompson, P., Hughes, J., Maheshwar, M. M., Nellist, M., Gamble, V., Harris, P. C., & Sampson, J. R. (1994). Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome. Nature Genetics, 8(4), 328-332. https://doi.org/10.1038/ng1294-328