Siblings with severe pyruvate kinase deficiency and a complex genotype. Issue 9 (29th June 2016)

• Record Type: Journal Article
• Authors: Christensen, Robert D.; Yaish, Hassan M.; Nussenzveig, Roberto H.; Agarwal, Archana M.
• Is Part Of: American journal of medical genetics. Volume 170:Issue 9(2016)
• Page Start: 2449
• Page End: 2452
• Publication Date: 2016-06-29
• Subjects: jaundice -- neonate -- hemolysis -- pyruvate kinase -- hereditary spherocytosis bilirubin -- hyperbilirubinemia -- AG‐348; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37828
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Siblings presented as neonates with severe jaundice and transfusion‐dependent hemolytic anemia. Next‐generation sequencing revealed both to have three heterozygous mutations in the gene encoding erythrocyte pyruv ate kinase ( PKLR ), plus a heterozygous splice mutation in the beta‐spectrin gene ( SPTB ). In addition, both have a different 5th mutation in a gene encoding other erythrocyte membrane proteins. The asymptomatic parents and all three asymptomatic siblings have different sets of these mutations. © 2016 Wiley Periodicals, Inc.