Human Molecular Genetics, Vol 7, 475-481, Copyright © 1998 by Oxford University Press
DL Stone, R Agarwala, AA Schaffer, JL Weber, D Vaske, T Oda, SC Chandrasekharappa, CA Francomano and LG Biesecker
McKusick-Kaufman syndrome is a human developmental anomaly syndrome
comprising mesoaxial or postaxial polydactyly, congenital heart disease and
hydrometrocolpos. This syndrome is diagnosed most frequently in the Old
Order Amish population and is inherited in an autosomal recessive pattern
with reduced penetrance and variable expressivity. Homozygosity mapping and
linkage analyses were conducted using two pedigrees derived from a larger
pedigree published in 1978. The PedHunter software query system was used on
the Amish Genealogy Database to correct the previous pedigree, derive a
minimal pedigree connecting those affected sibships that are in the
database and determine the most recent common ancestors of the affected
persons. Whole genome short tandem repeat polymorphism (STRP) screening
showed homozygosity in 20p12, between D20S162 and D20S894 , an area that
includes the Alagille syndrome critical region. The peak two-point LOD
score was 3.33, and the peak three-point LOD score was 5.21. The physical
map of this region has been defined, and additional polymorphic markers
have been isolated. The region includes several genes and expressed
sequence tags (ESTs), including the jagged1 gene that recently has been
shown to be haploinsufficient in the Alagille syndrome. Sequencing of
jagged1 in two unrelated individuals affected with McKusick-Kaufman
syndrome has not revealed any disease- causing mutations.
ARTICLES
Genetic and physical mapping of the McKusick-Kaufman syndrome
Laboratory of Genetic Disease Research, Laboratory of Gene Transfer and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
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