Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations

M De Braekeleer; F Simard; G Aubin

doi:10.1111/j.1399-0004.1997.tb02456.x

Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations

Clin Genet. 1997 Mar;51(3):214-6. doi: 10.1111/j.1399-0004.1997.tb02456.x.

Authors

M De Braekeleer¹, F Simard, G Aubin

Affiliation

¹ Département des Sciences Humaines, Université du Uuébec à Chicoutimi, Canada.

PMID: 9137890
DOI: 10.1111/j.1399-0004.1997.tb02456.x

Abstract

We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.

Publication types

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

MeSH terms

Adolescent
Child
Child, Preschool
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Female
Genetic Markers
Heterozygote*
Humans
Male
Phenotype
Point Mutation

Substances

CFTR protein, human
Genetic Markers
Cystic Fibrosis Transmembrane Conductance Regulator