Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency.
10.3343/kjlm.2011.31.4.294
- Author:
Dae Hyun KO
1
;
Ho Eun CHANG
;
Sang Hoon SONG
;
Hoil YOON
;
Kyoung Un PARK
;
Junghan SONG
Author Information
1. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. m91w95pf@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Alpha 1-antitrypsin deficiency;
Compound heterozygote;
Korean
- MeSH:
Adult;
Asian Continental Ancestry Group/*genetics;
Base Sequence;
Exons;
Female;
Frameshift Mutation;
Heterozygote;
Humans;
Mutation, Missense;
Pedigree;
Pulmonary Emphysema/diagnosis/radiography;
Republic of Korea;
Sequence Analysis, DNA;
Tomography, X-Ray Computed;
alpha 1-Antitrypsin/genetics;
alpha 1-Antitrypsin Deficiency/diagnosis/*genetics/radiography
- From:The Korean Journal of Laboratory Medicine
2011;31(4):294-297
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
