A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

Abstract

We have identified a point mutation in intron 19 of CFTR and abnormal epithelial function in patients who have cystic fibrosis-like lung disease but normal sweat chloride values. The identification of this mutation indicates that this syndrome is a form of cystic fibrosis. Screening for the mutation should prove diagnostically useful in this population of patients.

Malnutrition in adults with cystic fibrosis

“…Chronic bronchial colonization with Pseudomonas aeruginosa, meconium ileus, distal intestinal obstruction syndrome (DIOS), diabetes mellitus, cirrhosis, gallstones and gastroesophageal reflux were recorded. The CFTR gene was first analyzed by using a commercial kit based on oligonucleotide ligation assay then, if negative, screened by specific methods (Highsmith et al, 1994;Bienvenu et al, 1995;Chillon et al, 1995). CFTR genotypes were classified based on the primary mechanism of defective CFTR function (Welsh & Smith, 1993;Zielenski & Tsui, 1995) into three groups (mild, severe or indeterminate CFTR genotype) according to the probable effect of their mutations on CFTR function, regardless of clinical severity.…”

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

“…These include mutations known to be associated with variable phenotypic expression such as R117H, 21,22 D1152H, [23][24][25] and 3849ϩ10kbCϾT. 27,28 Assuming Ϸ74% detection for the mutations analyzed and an observed carrier frequency of 1/95, an adjustment to 100% detection would result in a carrier frequency of 1/76, which is not significantly different than the expected 1/61 3 based on the disease incidence (P ϭ 0.1779).…”

A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene

“…Cryptic exons have been shown to be activated by intron mutations that either create or strengthen splice sites or create a branch site (Highsmith et al 1994;Chillon et al 1995;Wang et al 1997;Vervoort et al 1998;Ars et al 2000). In addition, an intracryptic exon deletion has been shown to cause erroneous splicing (Pagani et al 2002;Eng et al 2004).…”