A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening

Previous studies performed on Sardinian patients affected by cystic fibrosis (CF) have led to the identification of molecular defects in 87 of 88 patients. Two mutations, the F508del and T338I, were quite prevalent and accounted for 50% and 20% of the molecular defects, respectively. T338I has been...

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Bibliographic Details
Published in:	The Journal of molecular diagnostics : JMD Vol. 8; no. 4; pp. 499 - 503
Main Authors:	Faà, Valeria, Bettoli, Pietro Pellegrini, Demurtas, Maria, Zanda, Maurizio, Ferri, Vincenzina, Cao, Antonio, Rosatelli, Maria Cristina
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-09-2006 ASIP American Society for Investigative Pathology
Subjects:	Alleles Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics DNA - analysis DNA Mutational Analysis Genetic Testing Humans Italy Mutation Population Groups Regular RNA - analysis Italy
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Summary:	Previous studies performed on Sardinian patients affected by cystic fibrosis (CF) have led to the identification of molecular defects in 87 of 88 patients. Two mutations, the F508del and T338I, were quite prevalent and accounted for 50% and 20% of the molecular defects, respectively. T338I has been detected rarely in other populations, most likely because of the genetic isolation of Sardinians. In the present study, we have performed a molecular analysis of the CF gene in eight Sardinian patients in whom only a single mutation has been defined. Using DNA analyses (Southern blot, single nucleotide polymorphisms, microsatellite analyses, and Extra-Long polymerase chain reaction) selected to detect gross gene rearrangement and by using mRNA studies, we detected a novel mutation c.54-5811_164 + 2186del8108ins182 in six of the eight patients investigated. This mutation consists of a gross deletion of 8108 bp spanning exon 2 with an insertion of 182 bp at the deletion junction, between nucleotide 54-5811 of intron 1 (IVS1 nt16864) and nucleotide 164 + 2186 of intron 2 (IVS2 nt 2186). By including the novel mutation in our mutation panel we are now able to reach a 95% detection rate, thereby improving the process of carrier detection and genetic counseling in Sardinia.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Address reprint requests to Maria Cristina Rosatelli, Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi, via Jenner, 09121, Cagliari, Italy. E-mail: rosatelli@mcweb.unica.it.
ISSN:	1525-1578 1943-7811
DOI:	10.2353/jmoldx.2006.050146