2020
DOI: 10.1038/s41431-020-0678-9
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Rare heterozygous GDF6 variants in patients with renal anomalies

Abstract: Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patient with renal, i.e., crossed fused renal ectopia, and extrarenal, i.e., skeletal, eye, and ear, malformations yielded a rare heterozygous variant in the GDF6 gene encoding growth differentiation factor 6, a member of the BMP family of ligands. Previously, GDF6 vari… Show more

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Cited by 7 publications
(5 citation statements)
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“…CAKUT is so far the most studied renal disease in Xenopus . Genes like GDF6 [ 40 ], DYRK1A [ 41 ], and NRIP1 [ 42 ] are recent examples for functional validation in frog alongside with presentation of patient data. For a more complete list of CAKUT genes whose expression and function have been studied in Xenopus , we refer to [ 43 ].…”
Section: Xenopus – the Classic Onementioning
confidence: 99%
“…CAKUT is so far the most studied renal disease in Xenopus . Genes like GDF6 [ 40 ], DYRK1A [ 41 ], and NRIP1 [ 42 ] are recent examples for functional validation in frog alongside with presentation of patient data. For a more complete list of CAKUT genes whose expression and function have been studied in Xenopus , we refer to [ 43 ].…”
Section: Xenopus – the Classic Onementioning
confidence: 99%
“…In general, crosstalk between transforming growth factor beta and BMP signaling cascades influence fibrosis in different tissues of relevance in the context of PD [25]. Compared to other ligands binding to this receptor, relatively little information is available for GDF6, although there is some evidence of its role in the context of renal dysfunction [26,27].…”
Section: Receptor-ligand Interactions Between Bone Morphogenic Protei...mentioning
confidence: 99%
“…In addition, while targeted injections allow to dissect tissue‐specific functions (Moody, 2018), the use of chemical inhibitors as well as activators can serve to modulate signaling pathways at specific time points (Maj et al, 2016). Together with the technical means of rescue experiments, Xenopus is thereby ideally suited for the efficient and inexpensive analysis of candidate genes or genetic variants with a potential role in human disease (Bajpai et al, 2010; Devotta, Juraver‐Geslin, Gonzalez, Hong, & Saint‐Jeannet, 2016; Duncan & Khokha, 2016; Lienkamp, 2016; Martens et al, 2020; Ott et al, 2019; Pratt & Khakhalin, 2013; Schwenty‐Lara et al, 2020; Ufartes et al, 2018; Vivante et al, 2017).…”
Section: Xenopus As a Model To Study Kabuki Syndrome And Other Neurocmentioning
confidence: 99%
“…Together with the technical means of rescue experiments, Xenopus is thereby ideally suited for the efficient and inexpensive analysis of candidate genes or genetic variants with a potential role in human disease (Bajpai et al, 2010; Devotta, Juraver-Geslin, Gonzalez, Hong, & Saint-Jeannet, 2016;Duncan & Khokha, 2016;Lienkamp, 2016;Martens et al, 2020;Ott et al, 2019;Pratt & Khakhalin, 2013;Schwenty-Lara et al, 2020;Ufartes et al, 2018;Vivante et al, 2017).…”
Section: Xenopus As a Model To Study Kabuki Syndrome And Other Neurocristopathiesmentioning
confidence: 99%