Hana Hartmannová

Heterozygous truncating variants in BICC1 are a novel cause of autosomal-dominant tubulointerstitial kidney disease

Naomi S Eylath, Kendrah Kidd, Piper Alyea-Herman, Julia Meyersiek et autres

Abstract Introduction Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is characterized by chronic kidney disease (CKD) with an average age of end-stage renal disease (ESRD) of approximately 45 years, bland urinary sediment, the absence of proteinuria and autosomal dominant inheritance. While several causative genes …

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Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

Klára Svojšová, Kendrah Kidd, Dita Mušálková, Tereza Kmochová et autres

Abstract Introduction Mitochondrial DNA (mtDNA) is not routinely analyzed in inherited kidney disease. We evaluated mtDNA variation in families who remained genetically unresolved despite extensive testing. Methods We reviewed pedigrees from the Wake Forest–Charles University Rare Inherited Kidney Disease Registry to identify …

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A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis - SUPPLEMENTARY APPENDIX

Nelson Leung, Aleš Hnı́zda, Ellen D. McPhail, Surendra Dasari et autres

An otherwise healthy man (III.1) presented at the age of 37 years with a 1-year history of proteinuria to 4.7 g/d, serum albumin of 37 g/L, and creatinine of 123 μmol/L, with an estimated glomerular filtration rate of 64 ml/min per 1.73 …

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A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis - SUPPLEMENTARY APPENDIX

Nelson Leung, Aleš Hnı́zda, Ellen D. McPhail, Surendra Dasari et autres

An otherwise healthy man (III.1) presented at the age of 37 years with a 1-year history of proteinuria to 4.7 g/d, serum albumin of 37 g/L, and creatinine of 123 μmol/L, with an estimated glomerular filtration rate of 64 ml/min per 1.73 …

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De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity

Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce, Javier Alonso et autres

EHMT1 and EHMT2 genes encode human euchromatin histone lysine methyltransferase 1 and 2 (EHMT1 alias GLP; EHMT2 alias G9a) that form heteromeric GLP/G9a complexes with essential roles in epigenetic regulation of gene expression. While EHMT1 haploinsufficiency has been established as the cause …

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VNtyper 2 enables open-access short-read genotyping of MUC1 VNTR variants in ADTKD at high-speed

Bernt Popp, Hassan Saei, Omri Teltsh, Václav Janoušek et autres

Abstract Background ADTKD- MUC1 is one of the major entities of ADTKD caused by frameshift variants in the MUC1 VNTR that standard short-read sequencing fails to detect. Existing 59dupC-targeted probe-extension assays do not allow for broad screening and cannot detect atypical non-dupC …

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Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis

Alena Vrbacká, Anna Přistoupilová, Kendrah Kidd, Václav Janoušek et autres

KEY POINTS: Single-molecule real-time sequencing with the PacMUC1 script resolved exact MUC1 variable tandem repeat structure and full allelic variation. In 300 individuals, the protocol identified 215 distinct MUC1 tandem repeat alleles with 80 repeat units and nine frameshift mutation types. Probe …

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A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis

Nelson Leung, Aleš Hnı́zda, Ellen D. McPhail, Surendra Dasari et autres

An otherwise healthy male (III.1) presented at age 37 with 1 year history of proteinuria to 4.7 g/d, serum albumin of 3.7 g/dl and a creatinine of 1.39 mg/dl with an eGFR of 64 ml/min per 1.73 m2. Serum CRP was < …

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Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease

Dita Mušálková, Martin Radina, Kendrah Kidd, Hana Hartmannová et autres

Key Points This is the first large-scale metabolomic study in genetically confirmed autosomal dominant tubulointerstitial kidney disease (ADTKD), providing a new resource for rare kidney diseases. ADTKD- UMOD and ADTKD- MUC1 are metabolically indistinguishable across stages, supporting the development of unified monitoring …

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Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Alena Vrbacká, Anna Přistoupilová, Kendrah Kidd, Václav Janoušek et autres

Abstract Background ADTKD- MUC1 is caused by frameshift mutations in MUC1 gene that produce a frameshifted protein (MUC1fs) toxic to kidney cells. The gene’s variable number of tandem repeats (VNTR), with high GC content, makes it largely inaccessible to standard sequencing. As …

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Cover Image

Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková et autres

Lysosomal storage in podocytes of a patient carrying the p.301Q α-galactosidase A mutation causing the classic Fabry disease is highlighted by immunohistochemical detection of lysosomal-associated protein 1. A panel from Supplemental Figure 1 from “Misprocessing of Alpha-Galactosidase A, Endoplasmic Reticulum Stress, and …

Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response

Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková et autres

Key Points The clinical significance of a number of missense variants of α -galactosidase A is often ambiguous. Defective proteostasis of some missense α -galactosidase A variants induced chronic endoplasmic reticulum stress and the unfolded protein response. Endoplasmic reticulum stress and the …

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