J Korean Med Sci.  2008 Oct;23(5):912-915. 10.3346/jkms.2008.23.5.912.

Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

• Ko JM
• Kim GH
• Kim KM
• Hong SJ
• Yoo HW

• KMID: 1783084
• DOI: http://doi.org/10.3346/jkms.2008.23.5.912

Abstract

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for CF. To date, less than 5 cases of CF have been reported and a few of them diagnosed based on the genotype of the CFTR gene in Korea. We encountered a 4-month-old Korean infant with CF and the diagnosis was confirmed by CFTR gene mutation analysis. The patient underwent surgical operation, due to meconium ileus at birth. He suffered by recurrent respiratory infections, failure to thrive, fatty liver with hepatomegaly, and cholestasis. The mutations of the CFTR gene were identified in the patient and his parents. The patient was a compound heterozygote with a nonsense mutation of c.263T>G, resulting in an amino acid change of p.Leu88X in exon 3. It was previously described in a Korean patient with CF. The other is a novel mutation; c.2089-2090insA mutation (p.Arg697LysfsX33) in exon 13. The mutation c.263T>G was inherited from his father, and the c.2089-2090insA mutation from his mother. Respiratory infection was recovered by supportive care, and cholestasis was improved slowly with sufficient feeding and supplementation of pancreatic exocrine enzymes. He is 19- month old now and shows catch-up growth. We report a novel CFTR mutation in a Korean infant with CF.

Keyword

Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; CFTR Gene; Meconium Ileus

MeSH Terms

Alleles
Base Sequence
Cholestasis
Cystic Fibrosis/*genetics
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
DNA Mutational Analysis
Exons
Female
Humans
Infant
Korea
Male
Molecular Sequence Data
*Mutation
Treatment Outcome

Figure

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  Fig. 1 Chest plain radiograph (A) and computed tomographic image (B) shows multifocal atelectases, peribronchial pneumonic infiltration and air-trapping of underlying lung parenchyme.

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  Fig. 2 Partial genomic DNA sequences of CFTR gene for the patient and his parents were showed. The patient had compound heterozygote mutations including a nonsense and a frameshift mutation and his father and mother carried each of these mutations respectively.

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  Fig. 3 Growth chart demonstrates improvement in height and weight status with supplementation of pancreatic exocrine enzymes and multi-vitamins.

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