CFTR mutation in an Arab patient: Clinical and functional features of 875+1G→A/875+1G→A genotype

Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora Marchina, Rita Padoan

Research output: Contribution to journalArticlepeer-review

Abstract

Cystic fibrosis (CF; MIM# 219700) is the most frequent recessive disease in Caucasian patients. However, immigration from the Middle East and Africa to Europe is revealing different CFTR mutations. Here, we have described an 875+1G→A mutation, found for the first time in a homozygous state in an 8 yr old boy. He was the child of a couple of Egyptian first level cousins, both carriers of the mutation. The functional test revealed the 875+1G→A to be a severe mutation, leading to defective protein function as detected by nasal potential difference (NPD) measurements.

Original languageEnglish
Pages (from-to)282-284
Number of pages3
JournalJournal of Cystic Fibrosis
Volume8
Issue number4
DOIs
Publication statusPublished - Jul 2009

Keywords

  • 875+1G→A
  • Arab mutations
  • CFTR
  • Cystic fibrosis

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

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