Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

Publication date: Available online 3 November 2016 Source:Genomics Data Author(s): Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C>T, p.(Arg1624Trp), c.5725C>T, p.(Arg1909Trp), c.1736C>T, p.(Thr579Met) and c.10628T>G, p.(Leu3543Trp)] among 12 out of 18 samples. However, one variant c.4870C>T, p.(Arg1624Trp) was common among eight patients. Some patient samples also showed few variants in autosomal dominant polycystic kidney disease (ADPKD) disease causing genes PKD1 and PKD2 such as c.12433G>A, p.(Val4145Ile) and c.1445T>G, p.(Phe482Cys), respectively. All causative variants were validated by capillary sequencing and confirmed the presence of a novel homozygous variant c.10628T>G, p.(Leu3543Trp) in a male proband. We have recently published the results of these studies (Edrees et al., 2016). Here we report for the first time the effect of the common mutation p.(Arg1624Trp) found in eight samples on the p...
Source: Genomics Data - Category: Genetics & Stem Cells Source Type: research