Boeckhaus, Jan, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Tonshoff, Burkhard, Ehren, Rasmus, Pape, Lars, Latta, Kay, Fehrenbach, Henry, Lange-Sperandio, Baerbel, Kettwig, Matthias, Hoyer, Peter, Staude, Hagen, Konrad, Martin, John, Ulrike, Gellermann, Jutta, Hoppe, Bernd, Galiano, Matthias, Gessner, Michaela, Pohl, Michael, Bergmann, Carsten, Friede, Tim and Gross, Oliver (2021). Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial. Clin. Genet., 99 (1). S. 143 - 157. HOBOKEN: WILEY. ISSN 1399-0004

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Abstract

Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. Genotype-phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. In-depth clinical and genetic data of 60/62 children who participated in the EARLY PRO-TECT Alport trial were analyzed. Genetic variants were interpreted according to current guidelines and criteria. Genetically solved patients with X-linked inheritance were then classified according to the severity of their COL4A5 variant into less-severe, intermediate, and severe groups and disease progress was compared. Almost 90% of patients were found to carry (likely) pathogenic variants and classified as genetically solved cases. Patients in the less-severe group demonstrated a borderline significant difference in disease progress compared to those in the severe group (p = 0.05). While having only limited power according to its sample size, an obvious strength is the precise clinical and genetic data of this well ascertained cohort. As in published data differences in clinical progress were shown between patients with COL4A5 less-severe and severe variants. Therefore, clinical and segregational data are important for variant (re)classification. Genetic testing should be mandatory allowing early diagnosis and therapy of AS.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Boeckhaus, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoefele, JuliaUNSPECIFIEDorcid.org/0000-0002-7917-7129UNSPECIFIED
Riedhammer, Korbinian M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tonshoff, BurkhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehren, RasmusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pape, LarsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Latta, KayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fehrenbach, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lange-Sperandio, BaerbelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kettwig, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoyer, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Staude, HagenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konrad, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, UlrikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gellermann, JuttaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoppe, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galiano, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gessner, MichaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pohl, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Friede, TimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gross, OliverUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-314352
DOI: 10.1111/cge.13861
Journal or Publication Title: Clin. Genet.
Volume: 99
Number: 1
Page Range: S. 143 - 157
Date: 2021
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1399-0004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
JOINT CONSENSUS RECOMMENDATION; BASEMENT-MEMBRANE NEPHROPATHY; MEDICAL GENETICS; AMERICAN-COLLEGE; NATURAL-HISTORY; RENAL-FAILURE; 195 FAMILIES; STANDARDS; GLOMERULOSCLEROSIS; GUIDELINESMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/31435

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