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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...

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Autores principales: Ko, Jung Min, Kim, Gu-Hwan, Kim, Kyung Mo, Hong, Soo-Jong, Yoo, Han-Wook
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2008
Materias:
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.
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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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