Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D

R B Parad

doi:10.1136/jmg.33.8.711

Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D

J Med Genet. 1996 Aug;33(8):711-3. doi: 10.1136/jmg.33.8.711.

Author

R B Parad¹

Affiliation

¹ Division of Respiratory Diseases, Ina Sue Perlmutter Cystic Fibrosis Research Laboratory, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Abstract

In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as "severe," causing pancreatic insufficiency. Two cystic fibrosis (CF) patients homozygous for this mutation showed a mild rather than severe pancreatic phenotype and a variable pulmonary phenotype.

Publication types

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

MeSH terms

Adult
Child
Cystic Fibrosis / genetics*
Cystic Fibrosis / physiopathology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Exons / genetics
Female
Homozygote*
Humans
Lung / physiopathology
Male
Mutation / physiology*
Pancreas / physiopathology
Phenotype

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator

Grants and funding

DK2273/DK/NIDDK NIH HHS/United States