A novel variant in <scp> <i>GATM</i> </scp> causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease-Reference-Cited by-同舟云学术

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A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

Published:2022-10-21 Issue:2 Volume:103 Page:214-218
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Seaby Eleanor G.¹²^ORCID,Turner Steven¹^ORCID,Bunyan David J.³,Seyed‐Rezai Fariba¹,Essex Jonathan⁴^ORCID,Gilbert Rodney D.¹⁵^ORCID,Ennis Sarah¹^ORCID

Affiliation:

1. Faculty of Medicine University of Southampton Southampton UK

2. Broad Institute of MIT and Harvard Cambridge Massachusetts USA

3. Wessex Regional Genetics Laboratory Salisbury NHS Foundation Trust Salisbury UK

4. School of Chemistry University of Southampton Southampton UK

5. Southampton Children's Hospital Southampton UK

Funder

Gerald Kerkut Charitable Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14235

Reference10 articles.

1. Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3

2. A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome

3. Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

4. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

5. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

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1. Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment;JIMD Reports;2024-08-19

2. Complex phenotype in Fanconi renotubular syndrome type 1: Hypophosphatemic rickets as the predominant presentation;Clinica Chimica Acta;2024-07

3. Functional metabolomics reveals arsenic-induced inhibition of linoleic acid metabolism in mice kidney in drinking water;Environmental Pollution;2024-05

4. Review of childhood genetic nephrolithiasis and nephrocalcinosis;Frontiers in Genetics;2024-03-28

5. Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia;Journal of Bone and Mineral Metabolism;2024-02-04

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