A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report
Year: 2024
Type: article
Study design: Case Report
Abstract: Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kartagener's syndrome and subsequently referred for bronchiectasis testing. She was identified with a hitherto unreported AATD mutation: a heterozygous variant rs1460874866 in a previously undefined exon 4 (NM_001127701.1) of the SERPINA1 gene. Although Kartagener's syndrome is a genetic cause of bronchiectasis, patients with this syndrome are recommended to undergo AATD testing.
Source: Croatian Medical Journal
Authors: Levent Ozdemir, Burcu Ozdemir, Savaş Gegi̇n
Institution: Samsun University
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4404052196