Family Resource Network
assignment of the locus
Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A.
INSERM Unite 184, Universite Louis Pasteur, Strasbourg, France.
The oto-palato-digital syndrome (OPD) is a rare X-linked disease with diagnostic
skeletal features, conduction deafness, cleft palate and mild mental
retardation. Differences in clinical presentation between families have led
investigators to classify OPD into two subtypes: type I and type II. A linkage
study performed in one family segregating for OPD I has recently suggested
linkage to three marker loci: DXS15, DXS52 at Xq28, and DXS86 at Xq26. We have
investigated an additional OPD I family for linkage by using distal chromosome
Xq DNA probes. The linkage data and the analysis of recombination events that
have occurred in this family excluded, definitively, the Xq26 region for OPD I,
and provide further support for mapping the mutant gene close to the cluster of
tightly linked markers DXS15, DXS52 and DXS305 at Xq28.
PMID: 1757098 [PubMed - indexed for MEDLINE]