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Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
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...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
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The Korean Academy of Medical Sciences
2008
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580002/ https://www.ncbi.nlm.nih.gov/pubmed/18955805 http://dx.doi.org/10.3346/jkms.2008.23.5.912 |
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author | Ko, Jung Min Kim, Gu-Hwan Kim, Kyung Mo Hong, Soo-Jong Yoo, Han-Wook |
author_facet | Ko, Jung Min Kim, Gu-Hwan Kim, Kyung Mo Hong, Soo-Jong Yoo, Han-Wook |
author_sort | Ko, Jung Min |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2580002 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | The Korean Academy of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-25800022008-11-07 Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis Ko, Jung Min Kim, Gu-Hwan Kim, Kyung Mo Hong, Soo-Jong Yoo, Han-Wook J Korean Med Sci Case Report 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. The Korean Academy of Medical Sciences 2008-10 2008-10-30 /pmc/articles/PMC2580002/ /pubmed/18955805 http://dx.doi.org/10.3346/jkms.2008.23.5.912 Text en Copyright © 2008 The Korean Academy of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Ko, Jung Min Kim, Gu-Hwan Kim, Kyung Mo Hong, Soo-Jong Yoo, Han-Wook Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title | Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title_full | Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title_fullStr | Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title_full_unstemmed | Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title_short | Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis |
title_sort | identification of a novel mutation of cftr gene in a korean patient with cystic fibrosis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580002/ https://www.ncbi.nlm.nih.gov/pubmed/18955805 http://dx.doi.org/10.3346/jkms.2008.23.5.912 |
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