Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency

Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficie...

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Main Authors:	Ko, Dae-Hyun, Chang, Ho Eun, Song, Sang Hoon, Yoon, Hoil, Park, Kyoung Un, Song, Junghan
Format:	Online
Language:	English
Published:	The Korean Society for Laboratory Medicine 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190011/

id	pubmed-3190011
recordtype	oai_dc
spelling	pubmed-31900112011-10-20 Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency Ko, Dae-Hyun Chang, Ho Eun Song, Sang Hoon Yoon, Hoil Park, Kyoung Un Song, Junghan Case Report Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficiency who visited the emergency department of our hospital for the treatment of progressive dyspnea that had begun 10 years ago. She had never smoked. Chest computed tomography revealed panlobular emphysema in both lungs, which suggested AAT deficiency. The serum AAT level was 33 mg/dL (reference interval: 90-200 mg/dL). Four exons of the SERPINA1 gene, which is responsible for AAT deficiency, and their flanking regions were analyzed by PCR-direct sequencing. The patient was found to have 1 missense mutation (c.230C>T, p.Ser77Phe; Siiyama) and 1 frameshift mutation (c.1158dupC, p.Glu387ArgfsX14; QOclayton). This is the first Korean case of AAT deficiency confirmed by genetic analysis and the second case of a compound heterozygote of Siiyama and QOclayton, the first case of which was reported from Japan. The Korean Society for Laboratory Medicine 2011-10 2011-10-03 /pmc/articles/PMC3190011/ /pubmed/22016686 http://dx.doi.org/10.3343/kjlm.2011.31.4.294 Text en Copyright © 2011 The Korean Society for Laboratory Medicine 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.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Ko, Dae-Hyun Chang, Ho Eun Song, Sang Hoon Yoon, Hoil Park, Kyoung Un Song, Junghan
spellingShingle	Ko, Dae-Hyun Chang, Ho Eun Song, Sang Hoon Yoon, Hoil Park, Kyoung Un Song, Junghan Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
author_facet	Ko, Dae-Hyun Chang, Ho Eun Song, Sang Hoon Yoon, Hoil Park, Kyoung Un Song, Junghan
author_sort	Ko, Dae-Hyun
title	Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
title_short	Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
title_full	Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
title_fullStr	Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
title_full_unstemmed	Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
title_sort	identification of compound heterozygous mutation in a korean patient with alpha 1-antitrypsin deficiency
description	Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that primarily affects the lungs and liver. While AAT deficiency is one of the most common genetic disorders in the Caucasian population, it is extremely rare in Asians. Here, we report the case of a 36-year-old Korean woman with AAT deficiency who visited the emergency department of our hospital for the treatment of progressive dyspnea that had begun 10 years ago. She had never smoked. Chest computed tomography revealed panlobular emphysema in both lungs, which suggested AAT deficiency. The serum AAT level was 33 mg/dL (reference interval: 90-200 mg/dL). Four exons of the SERPINA1 gene, which is responsible for AAT deficiency, and their flanking regions were analyzed by PCR-direct sequencing. The patient was found to have 1 missense mutation (c.230C>T, p.Ser77Phe; Siiyama) and 1 frameshift mutation (c.1158dupC, p.Glu387ArgfsX14; QOclayton). This is the first Korean case of AAT deficiency confirmed by genetic analysis and the second case of a compound heterozygote of Siiyama and QOclayton, the first case of which was reported from Japan.
publisher	The Korean Society for Laboratory Medicine
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190011/
_version_	1611479865020645376

Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency

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