Hi Dr. Turner,

A few weeks ago, we discussed the Waardenburg Syndrome gene and how I could figure out which grandparent I got the gene from.

The Gedmatch website has an utility where you can do a search for Rare SNP (Minor Allele) in your DNA. I did that for all genes that cause Waardenburg Syndrome for myself and my grandparents which yielded interesting, yet confusing, results. It appears that I got a copy of the MITF gene from each grandparent. It also appears that I have the PAX3 gene as well, which I got from my grandfather. I was wondering if you could help further explain these results?

Myself (Kit No. A524104):

RSID, Chr, Position (B36), Genotype, %Occurrence, Gene

rs7623486, 3, 69991784, GG (both GG are mutations), 18.0446, MITF

rs1367370, 3, 69970346, aG (G is a mutation), 18.8722, MITF

rs4855447, 3, 69886018, Ag (A is a mutation), 19.6193, MITF

rs16863671, 2, 222942248, aG (G is a mutation), 11.2148, PAX3

The SNAI2 gene is absent
The SOX10 gene is absent

My grandfather (Kit No. A275138):

rs4855447, 3, 69886018, Ag (A is a mutation), 19.6193, MITF (my grandfather and I match on this one)

rs16863671, 2, 222942248, aG (G is a mutation), 11.2148, PAX3 (we also match here)

The SNAI2 gene is absent.

My grandmother (Kit No. A327547):

rs7623486, 3, 69991784, GG (both GG are mutations), 18.0446, MITF (my grandmother and I match on this one)

rs1367370, 3, 69970346, GG (both GG are mutations), 18.8722, MITF

rs4855447, 3, 69886018, AA (both AA are mutations), 19.6193, MITF

rs11774894, 8, 49995830, Ag (A is a mutation), 4.46515 SNAI2

The PAX3 gene is absent

Thank you!

Jason