Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

doi:10.1016/j.ajhg.2016.05.028

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Article

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

American journal of human genetics - 7 Jul 2016

Bolar Nikhita Ajit, Golzio Christelle, Živná Martina, Hayot Gaëlle, Van Hemelrijk Christine, Schepers Dorien, Vandeweyer Geert, Hoischen Alexander, Huyghe Jeroen R, Raes Ann, Matthys Erve, Sys Emiel, Azou Myriam, Gubler Marie-Claire, Praet Marleen, Van Camp Guy, McFadden Kelsey, Pediaditakis Igor, Přistoupilová Anna, Hodaňová Kateřina, Vyleťal Petr, Hartmannová Hana, Stránecký Viktor, Hůlková Helena, Barešová Veronika, Jedličková Ivana, Sovová Jana, Hnízda Aleš, Kidd Kendrah, Bleyer Anthony J, Spong Richard S, Vande Walle Johan, Mortier Geert, Brunner Han, Van Laer Lut, Kmoch Stanislav, Katsanis Nicholas, Loeys Bart L

Abstract excerpt

Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied...

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Identifiers

PMID: 27392076
DOI: 10.1016/j.ajhg.2016.05.028
PMCID: PMC5005467

Genes

MUC1
REN
UMOD

Variants

Provenance

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