Computational protocol: Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients

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Protocol publication

[…] Genetic testing was not a prerequisite for patient registration. However, if individual genetic data was available, their registration was also requested. DNA sample was available in 113 patients. Mutation analyses via Sanger sequencing of the coding regions of all of the following genes were performed in 42 patients (37.1%) at the Nephrogenetics Laboratory of Hacettepe University: CFH, CFI, MCP, CFB, C3, DGKE, and CHFR5. Where applicable, in slico analyses, using Sorting Tolerant From Intolerant (SIFT) (http://sift.jcvi.org), Polymorphism Phenotyping v2 (PolyPhen2) (http://genetics.bwh.harvard.edu/pph2/index.shtml), Mutation taster (http://www.mutationtaster.org), and Human Splicing Finder (http://www.umd.be/HSF3/index.html) softwares were applied for predicting likely effects of the variations. aHUS mutation database (http://www.fh-hus.org), The Human Gene Mutation Database Professional (http://www.hgmd.cf.ac.uk/ac/index.php) and dbSNP database (https://www.ncbi.nlm.nih.gov/snp) were used to check whether identified variations had been reported previously. CFHR1-3 deletion in patients with anti-CFH autoantibodies was evaluated by multiplex ligation-dependent probe amplification (MLPA) analyses. Anti-complement Factor H autoantibody was searched in 44 patients using the CFH IgG ELISA Kit (Abnova™), according to the manufacturer’s recommendations, with a detection limit of 0.6 AU/mL. ADAMTS13 activity was detected using the ADAMTS-13 Activity Kit (Technozym™) according to the manufacturer’s recommendations, with a detection limit of 0.2% and an assay range of 0.3–105%.The study was approved by the ethics committee of Hacettepe University (FON10/03-22). Written informed consent was obtained from the parents of all the patients. […]

Pipeline specifications

Software tools PolyPhen, MutationTaster, HSF
Databases dbSNP HGMD
Application WGS analysis
Organisms Homo sapiens
Diseases Hemolytic-Uremic Syndrome, Genetic Diseases, Inborn