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Croatian medical journal · Oct 2024
Case ReportsA novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
- Levent Ozdemir, Burcu Ozdemir, and Savaş Gegin.
- Savaş Gegin, Samsun Training and Research Hospital, 55090 İlkadım/Samsun, Turkey, geginn@hotmail.com.
- Croat. Med. J. 2024 Oct 31; 65 (5): 450453450-453.
AbstractAlpha-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.
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