COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

doi:10.1681/ASN.2012100985

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Article

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Journal of the American Society of Nephrology : JASN - 1 Dec 2013

Storey Helen, Savige Judy, Sivakumar Vanessa, Abbs Stephen, Flinter Frances A

Abstract excerpt

Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations in either COL4A3 or COL4A4. Here, we...

Topics

Adolescent
Adult
Autoantigens
Child
Collagen Type IV
Eye Diseases
Female
Genes, Recessive
Genetic Testing
Hearing Loss, Sensorineural
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Nephritis, Hereditary

Phenotype

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 24052634
DOI: 10.1681/ASN.2012100985
PMCID: PMC3839543

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