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Ring dermoid of the cornea (RDC, MIM180550) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. The genetic basis of RDC is unknown. We report linkage of chromosome 4q24-q26 to RDC and identification of a missense mutation in PITX2 in 17 disease affected individuals but not in eight genetically related normal individuals in a large Chinese family.
A large Chinese family with 17 individuals affected by the RDC was identified (figs 1 and 2). All patients were diagnosed by the same physician (XHX). Informed written consent for blood sample collection was obtained from all participants.
Linkage analysis and genotyping were done essentially as previously described.1 Genome-wide screening was carried out with 382 microsatellite markers covering all autosomal chromosomes, with an average interval of 10 cM (ABI PRISM™ linkage mapping set, version 2.0). Fine …
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