2016
DOI: 10.1016/j.gdata.2016.10.009
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Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

Abstract: 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 pati… Show more

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Cited by 10 publications
(8 citation statements)
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“…There are currently around 1600 variants in PKD1 and PKD2 associated with clinical disease 2 . Classification of variants for PKD1 and PKD2 can be challenging for a variety of reasons including the private nature of most causative variants, 5 distribution of variants throughout the gene, 6 age-related penetrance, and high level of genetic heterogeneity 7 . In many cases, laboratories will ultimately classify a variant as of uncertain significance because of the limited available evidence.…”
Section: Discussionmentioning
confidence: 99%
“…There are currently around 1600 variants in PKD1 and PKD2 associated with clinical disease 2 . Classification of variants for PKD1 and PKD2 can be challenging for a variety of reasons including the private nature of most causative variants, 5 distribution of variants throughout the gene, 6 age-related penetrance, and high level of genetic heterogeneity 7 . In many cases, laboratories will ultimately classify a variant as of uncertain significance because of the limited available evidence.…”
Section: Discussionmentioning
confidence: 99%
“…In the present study, the four patients with a truncating PKD1 mutation had a more severe kidney phenotype than the patient with a non-truncating mutation. The c.5725C>T mutation in the PKHD1 gene, which is usually associated with ARPKD, has been reported in the Saudi population in association with ARPKD [42]. The subject carrying this mutation has a very strong family history of ADPKD (five members had ADPKD) and was at CKD stage 3.…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, OCD can be easily attached to NPs to target different cancer cells. Almost all of the OCD can be conjugated to amine PEGylated QDs as a surrogate for PEGylated NPs to specifically target normal and diseased cells overexpressing SSTR 2 (24,62).…”
Section: Introductionmentioning
confidence: 99%