J Korean Med Sci.  2010 Jan;25(1):163-165. 10.3346/jkms.2010.25.1.163.

Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

• Choe YJ
• Ko JS
• Seo JK
• Han JJ
• Shim JO
• Koh YY
• Lee R
• Ki CS
• Kim JW
• Kim JH

• KMID: 1713851
• DOI: http://doi.org/10.3346/jkms.2010.25.1.163

Abstract

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.

Keyword

Cystic Fibrosis; Cystic Fibrosis Conductance Regulator; Exocrine Pancreatic Insufficiency; Mutation

MeSH Terms

Alternative Splicing
Base Sequence
Cystic Fibrosis/complications/diagnosis/*genetics
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
Diagnosis, Differential
Exocrine Pancreatic Insufficiency/complications/diagnosis/*genetics
Female
Frameshift Mutation
Humans
Infant
Republic of Korea
Steatorrhea/diagnosis
Cystic Fibrosis Transmembrane Conductance Regulator

Figure

• 

  Fig. 1 Direct sequencing of the CFTR gene. A novel splice site mutation (c.1766+2T>C, open arrow) and a novel 1-bp duplication (c.3908dupA; Asn1303LysfsX6, filled arrow) were identified.

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