Case Report
Copyright ©2014 Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2014; 2(8): 395-397
Published online Aug 16, 2014. doi: 10.12998/wjcc.v2.i8.395
Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
Shirin Farjadian, Mozhgan Moghtaderi, Roberta Zuntini, Simona Ferrari
Shirin Farjadian, Department of Immunology, Allergy Research Center, Shiraz University of Medical Sciences, 71348-45794 Shiraz, Iran
Mozhgan Moghtaderi, Allergy Research Center, Shiraz University of Medical Sciences, 71348-45794 Shiraz, Iran
Roberta Zuntini, Simona Ferrari, Unità Operativa di Genetica Medica, Dipartimento di Scienze Mediche e Chirurgiche Policlinico Sant’Orsola-Malpighi, 40138 Bologna, Italy
Author contributions: Farjadian S designed, organized, and carried out the molecular genetic studies and drafted the manuscript; Moghtaderi M collected the medical data on the patient and reviewed the manuscript; Zuntini R and Ferrari S carried out some molecular tests and reviewed the manuscript; all authors read and approved the final manuscript.
Supported by Shiraz University of Medical Sciences, Shiraz, Iran and Bologna University, Bologna, Italy
Correspondence to: Shirin Farjadian, PhD, Department of Immunology, Allergy Research Center, Shiraz University of Medical Sciences, Zand Avenue, 71348-45794 Shiraz, Iran. farjadsh@sums.ac.ir
Telephone: +98-711-2351575 Fax: +98-711-2351575
Received: April 9, 2014
Revised: May 11, 2014
Accepted: June 10, 2014
Published online: August 16, 2014
Processing time: 147 Days and 17.8 Hours
Abstract

Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembrane conductance regulatory (CFTR) gene. The analysis of CFTR gene mutations is useful to better characterize the disease, and for preconceptional screening, prenatal and preimplantation genetic diagnosis. Here we report the results of a genetic analysis in a 16-year-old boy from southwestern Iran diagnosed as having cystic fibrosis in infancy based on gastrointestinal and pulmonary manifestations, with positive sweat chloride tests. He lacked both normal and mutant forms of the fragment corresponding to the ∆F508 allele in initial genetic studies. Multiplex ligation-dependent probe amplification-based testing revealed a homozygous deletion spanning exons 4 to 10 of the CFTR gene. We predict an in-frame deletion removing 373 amino acids based on our sequencing results. Determining CFTR gene mutations in patients and their family members would be helpful to prevent the occurrence of new cases, especially in populations in which consanguinity is common.

Keywords: Cystic fibrosis; Transmembrane conductance regulatory gene; Homozygous deletion

Core tip: Genetic analysis of the transmembrane conductance regulatory (CFTR) gene is helpful to characterize patients with cystic fibrosis, but sequencing and multiplex ligation-dependent probe amplification-based testing are only done to diagnose rare or unknown variants. Here we report a 16-year-old boy, the son of consanguineous healthy parents, who lacked both the normal and mutant forms of the ∆F508 alleles in initial molecular tests. Further analysis disclosed a rare large homozygous CFTR gene deletion in this patient.