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Alport Syndrome

  • COL4A5
Alport syndrome (AS) has a prevalence of about 1 in 50,000 live births and is characterized by progressive glomerulonephritis and sensorineural hearing loss. Patients develop proteinuria and progressive renal failure, which eventually leads to end-stage renal disease in their 30s and 40s. Alport syndrome is genetically heterogeneous. The X-linked form is most common, while autosomal recessive or dominant forms are less prevalent. X-linked Alport syndrome is semi-dominant and often also manifests in female carriers. Approximately 90% of female carriers have microscopic hematuria, which can lead to renal failure later in life. Using genomic DNA obtained from buccal (cheek) swabs or blood (2-5mL in EDTA), bi-directional sequence of the entire coding region and splice junctions of the COL4A5 gene (exons 1-51) is obtained and analyzed. The clinical sensitivity of COL4A5 testing is very high. More than 92% of affected males with Alport syndrome are expected to harbor a mutation in the COL4A5 gene that is detectable by DNA sequencing analysis as performed at GeneDx. In females, full gene sequence analysis could miss the presence of a whole or partial gene deletion. Therefore, quantitative PCR analysis (CopyDx) is available, if indicated, for identifying such a deletion, making the overall test sensitivity in females almost as high as in males. If the inheritance of Alport syndrome in a family is unknown, an overall test sensitivity of approximately 75% is expected. Carrier testing and prenatal diagnosis is available once mutation(s) in the family have been defined.

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Alport Syndrome; Alport; COL4A5; COL5A4; Alprot; Aplort, Alpotr; collagen, collagen disorder; X-linked; semi-dominant; reduced penetrance; microscopic hematuria; sensorineural hearing loss; deafness; maculopathy; proteinuria; progressive renal failure; end-stage renal disease; renal disease; renal failure; kidney; kidney failure; kidney disease; ocular; posterior polymorphous dystrophy; corneal erosion; anterior lenticonus; leiomyomatosis; fatal

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