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 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; S(iiyama)) and 1 frameshift mutation (c.1158dupC, p.Glu387ArgfsX14; QO(clayton)). This is the first Korean case of AAT deficiency confirmed by genetic analysis and the second case of a compound heterozygote of S(iiyama) and QO(clayton), the first case of which was reported from Japan.
Department of Laboratory Medicine, Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam, Korea.
Dae-Hyun
DH
Ko
Ho Eun
HE
Chang
Sang Hoon
SH
Song
Hoil
H
Yoon
Kyoung Un
KU
Park
Junghan
J
Song
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D011656:Pulmonary Emphysema / Q000175:diagnosis / Q000000981:diagnostic imaging; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*
C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin