Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

Roser Torra, Cèlia Badenas, Alejandro Darnell, Juan Antonio Camacho, Richard Aspinwall, Peter C. Harris, Xavier P. Estivill

Research output: Contribution to journalArticle

30 Citations (Scopus)


Tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically heteroge neous diseases. The major gene for ADPKD (PKD1) lies adjacent to the TSC2 gene on chromosome 16p13. Some reports in the literature referred to an unusual presentation of TSC with enlarged cystic kidneys at birth, but it was not until the localization of the TSC2 and PKD1 genes that it was possible to analyze the interaction between both genes. We describe a case of a child with TSC and enlarged cystic kidneys. The study of genetic marker segregation in the family pointed to the presence of a deletion involving the 3' region of PKD1. A further study of the region showed a deletion of 40 kb involving both PKD1 and TSC2. We suggest that an additive or synergistic effect between PKD1 and TSC2 may cause this renal phenotype. A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with TSC and enlarged polycystic kidneys at birth. The first approach to identify a deletion of both genes could be the analysis of the segregation of PKD1 and TSC2 markers in the family.

Original languageEnglish
Pages (from-to)1038-1043
Number of pages6
JournalAmerican Journal of Kidney Diseases
Issue number6
Publication statusPublished - Jun 1998
Externally publishedYes



  • Contiguous gene syndrome children
  • Deletion
  • Genetics
  • Loss of heterozigosity
  • Microsatellites
  • Polycysttc kidneys
  • Tuberous sclerosis type 2

ASJC Scopus subject areas

  • Nephrology

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