An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms

O Loumi; H Cuppens; R Bakour; M Benabadji; M Baghriche; P Marynen; J J Cassiman

An Algerian child homozygous for the M470V polymorphism and for a deletion of two nucleotides in exon 10 of the CFTR gene, shows severe cystic fibrosis symptoms

Genet Couns. 1992;3(4):205-7.

Authors

O Loumi¹, H Cuppens, R Bakour, M Benabadji, M Baghriche, P Marynen, J J Cassiman

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 1282016

Abstract

When screening for the presence of major cystic fibrosis mutations in Algerian cystic fibrosis families by heteroduplex formation, aberrant heteroduplexes were observed for exon 10 in one family. Here we describe the clinical and molecular findings in a severely affected child of this family, homozygous for the 1609delCA and for the M470V polymorphism.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Algeria
Child, Preschool
Chromosome Deletion*
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
Exons / genetics*
Female
Gene Amplification / genetics
Genetic Markers / genetics
Genetic Testing
Homozygote*
Humans
Membrane Proteins / genetics*
Nucleotides / genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*

Substances

CFTR protein, human
Genetic Markers
Membrane Proteins
Nucleotides
Cystic Fibrosis Transmembrane Conductance Regulator