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Article

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.

Croatian medical journal - 31 Oct 2019

Šenjug Petar, Nikuševa Martić Tamara, Šenjug Perica Marija, Oroz Maja, Horaček Matija, Ćuk Martin, Abdović Slaven, Galešić Ljubanović Danica

Abstract excerpt

Alport syndrome (AS) is a genetically heterogenic, structural disorder of the glomerular basement membrane (GBM) due to the mutation of COL4A3, COL4A4, or COL4A5 genes, which clinically presents as progressive hematuric nephritis with ultrastructural changes of the GBM, high tone sensorineural hearing loss, and ocular lesions. About 15% of AS cases have autosomal mutations of COL4A3 and COL4A4 genes, including...

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PMID: 31686460
PMCID: PMC6852137

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