Alport Syndrome, Autosomal Recessive
Alport syndrome (AS) is characterized by progressive kidney disease, eye abnormalities, and hearing loss. The kidney disease is often associated with hematuria and proteinuria, and eventually progresses to end-stage renal disease. AS can be inherited in either an X-linked, autosomal dominant or autosomal recessive manner, with mutations in different genes causing each type. While the X-linked form is the most common in the general population, an Ashkenazi Jewish founder mutation has been identified in the COL4A3 gene, which results in an autosomal recessive form of AS. Testing for this mutation, p.L14_L21del (c.40_63del), is expected to identify over 95% of COL4A3 mutation carriers in the Ashkenazi Jewish population, where the carrier frequency is estimated to be about 1 in 192.
Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.
1. Lemmink HH1, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet. 1994 Aug3(8):1269-73.
2. Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. Clin Genet. 2014 Aug86(2):155-60. doi: 10.1111/cge.12247.
Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: Two confluent T-25 flasks
Additionally, please send:
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary
Forms and Brochures
Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel