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

NA. Bolar, C. Golzio, M. Živná, G. Hayot, C. Van Hemelrijk, D. Schepers, G. Vandeweyer, A. Hoischen, JR. Huyghe, A. Raes, E. Matthys, E. Sys, M. Azou, MC. Gubler, M. Praet, G. Van Camp, K. McFadden, I. Pediaditakis, A. Přistoupilová, K. Hodaňová,...

. 2016 ; 99 (1) : 174-187.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc17023862

Grantová podpora
NT13116 MZ0 CEP - Centrální evidence projektů

Digitální knihovna NLK
Plný text - Článek
Zdroj

E-zdroje Online Plný text

NLK Cell Press Free Archives od 1997-01-01 do Před 6 měsíci
Free Medical Journals od 1949 do Před 6 měsíci
PubMed Central od 1949 do Před 6 měsíci
Europe PubMed Central od 1949 do Před 6 měsíci
Open Access Digital Library od 2005-01-01
Elsevier Open Access Journals od 1997-06-01
Elsevier Open Archive Journals od 1997 do Před 6 měsíci

Odkazy

PubMed 27392076
DOI 10.1016/j.ajhg.2016.05.028
Knihovny.cz E-zdroje

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 by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly)-both affecting functionally important and conserved residues in SEC61. Both transiently expressed SEC6A1A variants are delocalized to the Golgi, a finding confirmed in a renal biopsy from an affected individual. Suppression or CRISPR-mediated deletions of sec61al2 in zebrafish embryos induced convolution defects of the pronephric tubules but not the pronephric ducts, consistent with the tubular atrophy observed in the affected individuals. Human mRNA encoding either of the two pathogenic alleles failed to rescue this phenotype as opposed to a complete rescue by human wild-type mRNA. Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. We highlight protein translocation defects across the endoplasmic reticulum membrane, the principal role of the SEC61 complex, as a contributory pathogenic mechanism for ADTKD.

Citace poskytuje Crossref.org

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