| Title |
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis
|
|---|---|
| Published in |
Lung, July 2017
|
| DOI | 10.1007/s00408-017-0033-2 |
| Pubmed ID | |
| Authors |
G. E. Carpagnano, R. Santacroce, G. A. Palmiotti, A. Leccese, E. Giuffreda, M. Margaglione, M. P. Foschino Barbaro, S. Aliberti, D. Lacedonia |
| Abstract |
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v.n. 90-200 mg/dl). No S or Z mutation was identified, but sequencing analysis found a novel missense variant Ile74Asn (c.221T > A) in heterozygous state on an M3 allele (Glu400Asp) in the exon 2 of the SERPINA-1gene, probably leading to a dysfunctional protein. This mutation has never been previously identified, and it is interesting to note the association with bronchiectasis in the absence of emphysema. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 18% |
| Researcher | 4 | 18% |
| Librarian | 2 | 9% |
| Student > Doctoral Student | 2 | 9% |
| Student > Master | 1 | 5% |
| Other | 2 | 9% |
| Unknown | 7 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 23% |
| Medicine and Dentistry | 5 | 23% |
| Agricultural and Biological Sciences | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Earth and Planetary Sciences | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 8 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 July 2017.
All research outputs
#15,467,628
of 22,985,065 outputs
Outputs from Lung
#567
of 891 outputs
Outputs of similar age
#197,638
of 314,066 outputs
Outputs of similar age from Lung
#10
of 19 outputs
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