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

Seaby, Eleanor G; Turner, Steven; Bunyan, David J; Seyed-Rezai, Fariba; Essex, Jonathan; Gilbert, Rodney D; Ennis, Sarah

Seaby, Eleanor G; Turner, Steven; Bunyan, David J; Seyed-Rezai, Fariba; Essex, Jonathan; Gilbert, Rodney D; Ennis, Sarah.

Affiliation

Seaby EG; Faculty of Medicine, University of Southampton, Southampton, UK.
Turner S; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Bunyan DJ; Faculty of Medicine, University of Southampton, Southampton, UK.
Seyed-Rezai F; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
Essex J; Faculty of Medicine, University of Southampton, Southampton, UK.
Gilbert RD; School of Chemistry, University of Southampton, Southampton, UK.
Ennis S; Faculty of Medicine, University of Southampton, Southampton, UK.

Clin Genet ; 103(2): 214-218, 2023 02.

Article in En | MEDLINE | ID: mdl-36148635

Subject(s)

Fanconi Syndrome; Kidney Failure, Chronic; Child; Adult; Female; Humans; Fanconi Syndrome/diagnosis; Fanconi Syndrome/genetics; Fanconi Syndrome/complications; Kidney Failure, Chronic/genetics; Kidney Failure, Chronic/complications; Genetic Testing; Causality

Key words

end-stage kidney disease; exome sequencing; genetics; molecular dynamics; renal Fanconi syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fanconi Syndrome / Kidney Failure, Chronic Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Female / Humans Language: En Journal: Clin Genet Year: 2023 Type: Article Affiliation country: United kingdom

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