Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis

Laura Cremonesi, Silvia Cainarca, Annalisa Rossi, Rita Padoan, Maurizio Ferrari

Research output: Contribution to journalArticle

Abstract

Search for mutations in a cystic fibrosis patient, compound heterozygous for 1717-1G→A and another uncharacterized molecular defect, revealed the presence of a de novo R1066H mutation on the affected chromosome of paternal origin. Three additional rare mutations (R1066C, R1066S and R1066L), occurring at the CpG dinucleotide at position 3328-3329 of the cystic fibrosis transmembrane conductance regulator gene, have so far been reported. The identification of a R1066H de novo mutation further suggests that this dinucleotide may constitute a mutational hotspot.

Original languageEnglish
Pages (from-to)119-121
Number of pages3
JournalHuman Genetics
Volume98
Issue number1
DOIs
Publication statusPublished - Jul 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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