Beaumont Hospital Kidney Centre

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Published in 2022

Genetic polymorphism in Methylenetetrahydrofolate Reductase Chloride transport protein 6 (MTHFR CLCN6) gene is associated with keratinocyte skin cancer in a cohort of renal transplant recipients.

Renal transplant recipents (RTRs) are at increased risk of keratinocyte cancer (KC) , especially cutaneous squamous cell carcinoma (cSCC). Previous studies identifieda genetic variant of Methylenetetrahydrofolate Reductase  (MTHFR) gene , C677T, which conferred a risk for diagnosis of cSCC in irish RTRs.

Authors: L.Griffin, L.Ho, R.J Akhurst, S.T Arron, J,M.E Boggs, P.Conlon, P.O Kelly, A.E Toland, E.H Epstein, A.Balmain, B.C Bastian, F.J Moloney, G.M Murphy, M.E Laing.

Date: Skin Health and Diseases, 2022,e95



Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. PKD is a ciliary-associated disease, a ciliopathy, and many syndromic ciliopathies have a PKD phenotype.

Authors: Sarah R Senum, Ying Sabrina M Li, Katherine A Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D Madsen, Adriana V Gregory, Ruxandra Neatu, Timothy L Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B Nau, Esther Meijer, Hamad Ali, Theodore I Steinman, Michal Mrug, Paul J Phelan, Terry J Watnick, Dorien J M Peters, Albert C M Ong, Peter J Conlon, Ronald D Perrone, Emilie Cornec-Le Gall, Marie C Hogan, Vicente E Torres, John A Sayer, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Peter C Harris

Date: Am J Hum Genet.2022 Jan 6;109(1):136-156