Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Jan Van Eys.
The Bar Harbor Course and "McKusick's Catalog," 1960-1980
Letter from Jan Van Eys to Victor A. McKusick (February 16, 1971)
Letter from Victor A. McKusick to Jan Van Eys (February 25, 1971)
March 12, 1971
Dear Dr. McKusick:
I want to thank you for your letter. I am looking forward to the meeting in June.
In answer to your question regarding pyruvate kinase deficiency. We are investigating a very large kindred. The propositus
has a mother who is a trained social worker. She became excited about the family and traced her pedigree to one ancestor.
Few cases of overt disease are present but we have been able to check over two hundred descendants, and we are going to obtain
more blood. Because of the size of the sample, a bimodel distribution is evident and from correlation of geneological [sic]
information and enzyme assay we feel confident that heterozygosity can be assigned. Our initial interest was in delineating
the morbidity in heterozygotes. Therefore, we have not attempted linkage studies so far. However, the family has invited me
again to check further members. Because there is modest consanguinity, albeit many generations apart, the family is interested
in enzyme assays for genetic counseling reasons.
We have included the case of the boy in an article which will appear in Advances in Pediatrics in 1971. The data we are accumulating
on the family is an interesting geneological [sic] history in its own right, and we hope to make this available also in the
future. It is quite possible that this family may present a link to other kindreds in the U.S.
We would be very grateful for any advice you may have in pursuing linkage studies. Once again, thank you for your interest.