Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency

Korean Journal of Laboratory Medicine

Volumn 31, Issue 4, 2011, Pages 294-297

  Ko, Dae Hyun ^a   Chang, Ho Eun ^a   Song, Sang Hoon ^a   Yoon, Hoil ^a   Park, Kyoung Un ^a   Song, Junghan ^a  

^a Seoul National University Bundang Hospital   (South Korea)

Author keywords

Alpha 1 antitrypsin deficiency; Compound heterozygote; Korean

Indexed keywords

ALPHA 1 ANTITRYPSIN; SERPINA1 PROTEIN, HUMAN;

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; ASIAN; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOTE; HUMAN; LUNG EMPHYSEMA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RADIOGRAPHY; SOUTH KOREA;

ADULT; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PULMONARY EMPHYSEMA; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84857429676     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2011.31.4.294     Document Type: Article

References (16)

1. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003;168:818-900.
2. de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002;122:1818-29. (Pubitemid 35366098)
3. Ferrarotti I, Scabini R, Campo I, Ottaviani S, Zorzetto M, Gorrini M, et al. Laboratory diagnosis of alpha1-antitrypsin deficiency. Transl Res 2007;150:267-74.
4. Seyama K, Nukiwa T, Takabe K, Takahashi H, Miyake K, Kira S. Siiyama (serine 53 [TCC] to phenylalanine 53 [TTC]). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone. J Biol Chem 1991;266: 12627-32. (Pubitemid 21907141)
5. Brantly M, Lee JH, Hildesheim J, Uhm CS, Prakash UB, Staats BA, et al. alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]. Am J Respir Cell Mol Biol 1997;16:225-31. (Pubitemid 127497444)
6. Huber R and Carrell RW. Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins. Biochemistry 1989;28:8951-66. (Pubitemid 19283457)
7. Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S. Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med 1995;152:2119-26.
8. Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, et al. Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet 1994;55:1113-21.
9. Carrell RW, Jeppsson JO, Laurell CB, Brennan SO, Owen MC, Vaughan L, et al. Structure and variation of human alpha 1-antitrypsin. Nature 1982;298:329-34. (Pubitemid 12044284)
10. P01009(A1AT-Human). Reviewed, UniProtKB/Swiss-Prot. http://www.uniprot. org/uniprot/P01009.(Updated on May 2011).
11. Miyahara N, Seyama K, Sato T, Fukuchi Y, Eda R, Takeyama H, et al. Compound heterozygosity for alpha-1-antitrypsin (S[iiyama] and QO[clayton]) in an Oriental patient. Intern Med 2001;40:336-40. (Pubitemid 33606178)
12. Cooper DN, Ball EV, Stenson PD, Phillips AD, Shaw K, Mort ME. The human gene mutation database at the institute of medical genetics in cardiff. http://www.hgmd.cf.ac.uk/ac/index.php (Updated on Jun 2005).
13. Husami A (Ed). LOVD gene hompage. https://research.cchmc.org/LOVD/home. php?select-db=SERPINA1 (Updated on May 2010).
14. McPherson RA. Specific proteins. In: McPherson RA and Pincus MR. eds. Henry's clinical diagnosis and management by laboratory methods. 21st ed.Philadelphia, PA: WB Saunders, 2007: 236-41.
15. Okayama H, Brantly M, Holmes M, Crystal RG. Characterization of the molecular basis of the alpha 1-antitrypsin F allele. Am J Hum Genet 1991;48:1154-8. (Pubitemid 21903078)
16. Lewis JH, Iammarino RM, Spero JA, Hasiba U. Antithrombin Pittsburgh: an alpha1-antitrypsin variant causing hemorrhagic disease. Blood 1978;51:129-37. (Pubitemid 8264124)