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Abstract

July-September 2014 | Vol. 7 | Issue 3 | Page No 3-6
Compound heterozygosity for p.F508del mutation and deletion of exons 4-11 in CFTR in an infant...
Sumita Danda 1*, Sabitha Omprakash1, Bhairavi Srinageshwar1, Sneha Varki2
1Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu 2Department of Child Health, Christian Medical College, Vellore, Tamil Nadu
Address for Correspondence Email: sdanda@cmcvellore.ac.in
 
Abstract
Cystic fibrosis (CF) is a life threatening genetic condition caused due to mutations in the CFTR gene. This is an autosomal recessive condition and usually parents are carriers of a heterozygous mutation in the CFTR gene. We describe an infant diagnosed with the severe phenotype of CF and detected to be homozygous for p.F508del by ARMS-PCR. However, parental studies confirmed carrier state in mother but the father showed a wild allele by ARMS-PCR and sequencing. This prompted us to look for uniparental disomy (UPD) and large deletions. UPD was ruled out by studying both intragenic and extragenic markers for chromosome 7. The proband and the father were found to have a large deletion detected by MLPA involving exons 4-11 in the CFTR gene which includes the region coding for phenylalanine at position 508. This case highlights the need of caution when interpreting results of molecular genetic testing during genetic counseling. It is the first documented case from India with point mutation and large deletion of the CFTR gene giving rise to apparent homozygosity for p.F508del.
 
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