Alport syndrome was previously thought to not occur more often in different ethnicities. But in 2014 an article reported a Ashkenazi Jewish "founder mutation" in the COL4A3 gene. The mutation involves a deletion of genetic material and is called c.40_63del. The researchers in this study initially identified the mutation in three sisters with Alport syndrome of Ashkenazi Jewish (AJ) ancestry. The researchers then completed mutation testing on about 1,000 healthy volunteers of AJ ancestry. They identified the COL4A3 c.40_63del mutation in 6 of the volunteers. The carrier frequency was determined to be 1 in 183 or 0.55%. Although this mutation has been reported in other ethnic populations, the carrier frequency remains unknown. Of note, this mutation was not identified in the 1000 genomes project, which included genomic testing of individuals of European, East Asian, West African, and American ancestry.
Last updated: 4/8/2016
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