Gutenberg Open Science: Hereditary spherocytosis : can next-generation sequencing of the five most frequently affected genes replace time-consuming functional investigations?

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-9760

Full metadata record

DC Field	Value	Language
dc.contributor.author	Häuser, Friederike	-
dc.contributor.author	Rossmann, Heidi	-
dc.contributor.author	Adenaeuer, Anke	-
dc.contributor.author	Shrestha, Annette	-
dc.contributor.author	Marandiuc, Dana	-
dc.contributor.author	Paret, Claudia	-
dc.contributor.author	Faber, Jörg	-
dc.contributor.author	Lackner, Karl J.	-
dc.contributor.author	Lämmle, Bernhard	-
dc.contributor.author	Beck, Olaf	-
dc.date.accessioned	2023-12-15T09:49:26Z	-
dc.date.available	2023-12-15T09:49:26Z	-
dc.date.issued	2023	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/9778	-
dc.description.abstract	Congenital defects of the erythrocyte membrane are common in northern Europe and all over the world. The resulting diseases, for example, hereditary spherocytosis (HS), are often underdiagnosed, partly due to their sometimes mild and asymptomatic courses. In addition to a broad clinical spectrum, this is also due to the occasionally complex diagnostics that are not available to every patient. To test whether next-generation sequencing (NGS) could replace time-consuming spherocytosis-specific functional tests, 22 consecutive patients with suspected red cell membranopathy underwent functional blood tests. We were able to identify the causative genetic defect in all patients with suspected HS who underwent genetic testing (n = 17). The sensitivity of the NGS approach, which tests five genes (ANK1 (gene product: ankyrin1), EPB42 (erythrocyte membrane protein band4.2), SLC4A1 (band3), SPTA1 (α-spectrin), and SPTB (β-spectrin)), was 100% (95% confidence interval: 81.5–100.0%). The major advantage of genetic testing in the paediatric setting is the small amount of blood required (<200 µL), and compared to functional assays, sample stability is not an issue. The combination of medical history, basic laboratory parameters, and an NGS panel with five genes is sufficient for diagnosis in most cases. Only in rare cases, a more comprehensive functional screening is required.	en_GB
dc.language.iso	eng	de
dc.rights	CC BY	*
dc.rights.uri	https://creativecommons.org/licenses/by/4.0/	*
dc.subject.ddc	500 Naturwissenschaften	de_DE
dc.subject.ddc	500 Natural sciences and mathematics	en_GB
dc.subject.ddc	570 Biowissenschaften	de_DE
dc.subject.ddc	570 Life sciences	en_GB
dc.subject.ddc	610 Medizin	de_DE
dc.subject.ddc	610 Medical sciences	en_GB
dc.title	Hereditary spherocytosis : can next-generation sequencing of the five most frequently affected genes replace time-consuming functional investigations?	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-9760	-
jgu.type.contenttype	Scientific article	de
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 04 Medizin	de
jgu.organisation.number	2700	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	International journal of molecular sciences	de
jgu.journal.volume	24	de
jgu.journal.issue	23	de
jgu.pages.alternative	17021	de
jgu.publisher.year	2023	-
jgu.publisher.name	Molecular Diversity Preservation International	de
jgu.publisher.place	Basel	de
jgu.publisher.issn	1422-0067	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	500	de
jgu.subject.ddccode	570	de
jgu.subject.ddccode	610	de
jgu.publisher.doi	10.3390/ijms242317021	de
jgu.organisation.ror	https://ror.org/023b0x485	-
jgu.subject.dfg	Lebenswissenschaften	de
Appears in collections:	DFG-491381577-G

Files in This Item:

File	Description	Size	Format
hereditary_spherocytosis__can-20231206105835093.pdf	Article	3.05 MB	Adobe PDF	View/Open
hereditary_spherocytosis__can-20231206105906639.xlsx	Supplementary Tables	48.29 kB	Microsoft Excel XML	View/Open
hereditary_spherocytosis___ca-20231211152157139.pdf	Supplementary Figures	568.97 kB	Adobe PDF	View/Open

Show simple item record