Compound Heterozygosity for Alpha-1-antitrypsin (Siiyama and QOclayton) in an Oriental Patient.

Miyahara, Nobuaki; Seyama, Kuniaki; Sato, Teruhiko; Fukuchi, Yoshinosuke; Eda, Ryosuke; Takeyama, Hiroyasu; Harada, Mine

doi:10.2169/internalmedicine.40.336

Cited by 10 publications

(6 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of the 14 cases in which the genetic defects have been elucidated, 10 are unrelated cases of Siiyama (13), one case contained the Mnichinan allele (14,15), one was a Mmaltonheterozygote case (16), an additional compoundheterozygote carried a Siiyama allele and a QOclayton null allele (17), and the last case was associated with 14q-syndrome (18). It was later found that our patient was a sister of the proband (II-7 in Fig.…”

Section: Case Reportmentioning

confidence: 77%

Systemic Vasculitis Associated with .ALPHA.1-antitrypsin Deficiency

et al. 2003

Self Cite

View full text Add to dashboard Cite

Wedescribe a rare case of systemic vasculitis associated with al-antitrypsin (al-AT) deficiency. Mutational analysis of the al-AT gene in this patient revealed a homozygousal-AT Mnichinanvariant. al-AT possesses broad-spectrum inhibitory activity against many serine proteases, including humanneutrophil elastase, to help maintaining the crucial balance between proteases and protease inhibitors. The increase in free protease activity in the context of al-AT deficiency may induce exacerbation of the vasculitis. This serious genetic defect severely affects the balance between a protease and a protease inhibitor at the pathological site. (Internal Medicine 42: 619-623, 2003)

show abstract

Section: Case Reportmentioning

confidence: 77%

Systemic Vasculitis Associated with .ALPHA.1-antitrypsin Deficiency

et al. 2003

Self Cite

View full text Add to dashboard Cite

show abstract

“…It has only been reported in a U.S. Caucasian family, a Korean family, and a Japanese family. 6,7 A total of 11 cases of S/Null genotype were found. Of S/Null genotypes two were heterozygotes of Q0 Clayton and S iiyamma which is a specific S variant with more severe disease than other S variants.…”

Section: Discussionmentioning

confidence: 99%

Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles

Rosenbaum

Chapaton-Rivard

Overdorf

2017

Spartan Medical Research Journal

View full text Add to dashboard Cite

Alpha-1 antitrypsin deficiency (AATD) is a disorder that can lead to early onset lung and liver disease and is considered to be underdiagnosed. The purpose of this paper is to demonstrate the importance of early detection using genotyping of AATD by presenting two very rare cases of this disorder and to remind clinicians to maintain a high level of suspicion for this disorder. Two unrelated patients presented to different pulmonology offices in Grand Blanc, MI and were screened for AATD for different reasons. Testing for both patients included alpha-1 antitrypsin enzyme levels, phenotyping, and genotyping. Both individuals were heterozygotes for S allele and Q0Clayton allele. The Q0Clayton allele is a very rare Null allele that is defined this way because these individuals do not produce any alpha-1 antitrypsin. These cases highlight the need for early testing of patients with risk factors for AATD. Also demonstrated is the need to include genotype testing to accurately identify the risk of developing emphysema and cirrhosis. Lower morbidity and mortality may result if AATD is detected early.

show abstract

“…We described the protein variations in a codon numbered from the methionine residue at the translation initiation site. However, the first 24 amino acids of AAT act as a signal peptide [ 9 , 10 ], and therefore, many studies numbered the codon from the glutamic acid at the 25th position [ 5 , 7 , 11 ]. There is no consensus about this issue and many articles and/or databases designate the same variations with different numbers [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

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

Chang

Song

et al. 2011

Ann Lab Med

View full text Add to dashboard Cite

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.

show abstract

Compound Heterozygosity for Alpha-1-antitrypsin (Siiyama and QOclayton) in an Oriental Patient.

Cited by 10 publications

References 18 publications

Systemic Vasculitis Associated with .ALPHA.1-antitrypsin Deficiency

Systemic Vasculitis Associated with .ALPHA.1-antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles

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

Contact Info

Product

Resources

About