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The major cystic fibrosis mutation in a British population
C J McMahon1, S A Genet, H R Middleton-Price
1Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
Insights
This study investigated cystic fibrosis (CF) genetic mutations in families seeking prenatal diagnosis. The common delta F508 mutation was prevalent, with most affected children inheriting it from carrier parents.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Genetic Counseling
Background:
- Cystic Fibrosis (CF) is a genetic disorder requiring genetic counseling for families.
- Prenatal diagnosis is crucial for families with a history of CF.
- Understanding mutation prevalence aids genetic screening and family planning.
Purpose of the Study:
- To analyze the frequency of the delta F508 mutation in families with CF.
- To determine the inheritance patterns of CF mutations in relation to prenatal diagnosis requests.
- To investigate the association between specific CF genotypes and meconium ileus.
Main Methods:
- Studied 72 families with at least one child diagnosed with CF.
- Performed genetic analysis to identify CFTR gene mutations, focusing on delta F508.
- Correlated genotypes with clinical presentation, specifically meconium ileus.
Main Results:
- The delta F508 mutation was identified in 77% of CF chromosomes.
- In 57% of families, both parents were carriers of a CF mutation, with the child being doubly deleted.
- Meconium ileus occurred across various delta F508 genotypes (homozygous, heterozygous, and non-deleted).
Conclusions:
- The delta F508 mutation is the most common CF mutation in this cohort.
- Parental carrier status is a significant factor in CF inheritance for families seeking prenatal diagnosis.
- Meconium ileus presentation is not exclusively linked to specific delta F508 genotypes.
Abstract:
We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested prenatal diagnosis in a future pregnancy. The delta F508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and the child was doubly deleted. In only 4 families, 2 of them being consanguineous, did neither parent carry a deleted chromosome. Meconium ileus was associated with children who were delta F508/delta F508, delta F508/non-deleted and non-deleted/non-deleted.