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Case Reports
. 2021 Mar 31;36(2):e243.
doi: 10.5001/omj.2021.28. eCollection 2021 Mar.

A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

Said Al Balushi  1 , Younis Al Balushi  2 , Moza Al Busaidi  1 , Latifa Al Mutawa  1
Affiliations
Case Reports

A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

Said Al Balushi et al. Oman Med J. .

Abstract

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

Keywords: CFTR protein, human; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Testing; Infant, Newborn; Mutation.

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Figures

Figure 1
Figure 1
CFTR gene on the long arm of chromosome 7 at q31.2 locus.
See this image and copyright information in PMC

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