Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts Early Renal Failure | Zendy

Rachel H. Tan | Zendy; Deb Colville | Zendy; Yan Yan Wang | Zendy; Lin Rigby | Zendy; Judy Savige | Zendy

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Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts Early Renal Failure

Author(s) -

Rachel H. Tan,

Deb Colville,

Yan Yan Wang,

Lin Rigby,

Judy Savige

Publication year - 2009

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.01030209

Subject(s) - alport syndrome , medicine , retinopathy , frameshift mutation , nonsense mutation , genetics , hearing loss , mutation , gene , endocrinology , kidney , diabetes mellitus , glomerulonephritis , missense mutation , biology , audiology

Previous studies of X-linked Alport syndrome demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. This study examined whether severe mutations also resulted in the typical perimacular dot-and-fleck retinopathy.

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