Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis

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dc.contributor.authorIsik E.
dc.contributor.authorAydinok Y.
dc.contributor.authorAlbayrak C.
dc.contributor.authorDurmus B.
dc.contributor.authorKarakas Z.
dc.contributor.authorOrhan M.F.
dc.contributor.authorSarper N.
dc.contributor.authorAydın S.
dc.contributor.authorUnal S.
dc.contributor.authorOymak Y.
dc.contributor.authorKaradas N.
dc.contributor.authorTuredi A.
dc.contributor.authorAlbayrak D.
dc.contributor.authorTayfun F.
dc.contributor.authorTugcu D.
dc.contributor.authorKaraman S.
dc.contributor.authorTobu M.
dc.contributor.authorUnal E.
dc.contributor.authorOzcan A.
dc.contributor.authorUnal S.
dc.contributor.authorAksu T.
dc.contributor.authorUnuvar A.
dc.contributor.authorBilici M.
dc.contributor.authorAzik F.
dc.contributor.authorAy Y.
dc.contributor.authorGelen S.A.
dc.contributor.authorZengin E.
dc.contributor.authorAlbudak E.
dc.contributor.authorEker I.
dc.contributor.authorKarakaya T.
dc.contributor.authorCogulu O.
dc.contributor.authorOzkinay F.
dc.contributor.authorAtik T.
dc.date.accessioned2024-07-22T08:01:02Z
dc.date.available2024-07-22T08:01:02Z
dc.date.issued2024
dc.description.abstractObjectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
dc.identifier.DOI-ID10.1111/ejh.14194
dc.identifier.issn09024441
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/11287
dc.language.isoEnglish
dc.publisherJohn Wiley and Sons Inc
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAnemia, Hemolytic, Congenital
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDNA Copy Number Variations
dc.subjectExome
dc.subjectExome Sequencing
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectGenetic Predisposition to Disease
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
dc.subjectMutation
dc.subjectYoung Adult
dc.subjectadult
dc.subjectArticle
dc.subjectautosomal recessive inheritance
dc.subjectcontrolled study
dc.subjectcopy number variation
dc.subjectdiseases
dc.subjectfemale
dc.subjecthemochromatosis
dc.subjecthemolytic anemia
dc.subjecthereditary hemolytic anemia
dc.subjecthereditary spherocytosis
dc.subjecthigh throughput sequencing
dc.subjecthuman
dc.subjecthuman cell
dc.subjectindel mutation
dc.subjectinformed consent
dc.subjectlaboratory test
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmolecular diagnosis
dc.subjectmolecular pathology
dc.subjectpolymerase chain reaction
dc.subjectRomani (people)
dc.subjectsingle nucleotide polymorphism
dc.subjectwhole exome sequencing
dc.subjectadolescent
dc.subjectchild
dc.subjectcopy number variation
dc.subjectdiagnosis
dc.subjectexome
dc.subjectgenetic association study
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjecthereditary hemolytic anemia
dc.subjectinfant
dc.subjectmutation
dc.subjectpreschool child
dc.subjectwhole exome sequencing
dc.subjectyoung adult
dc.titleIdentification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
dc.typeArticle

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