Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis

M. L. Smith, O. L. Pellett, T. C. Cahill, D. N. David, F. J. Kaskel, L. A. Smolin, A. A. Greene, K. Weissbecker, M. Dean, J. A. Schneider

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


We have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.

Original languageEnglish (US)
Pages (from-to)84-90
Number of pages7
JournalAmerican journal of medical genetics
Issue number1
StatePublished - 1991
Externally publishedYes


  • Bartter syndrome
  • autosomal recessive inheritance
  • linkage analysis

ASJC Scopus subject areas

  • Genetics(clinical)


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