Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

Authors

  • Valérie Cormier-Daire,

    Corresponding author
    • Department of Medical Genetics, Hopital Necker Enfants Malades, 149 Rue de Sevres 75015 Paris, France.
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    • Valérie Cormier-Daire is a clinical geneticist working in the Department of Medical Genetics. She has spent 1 year in Los Angeles at the Skeletal Dysplasia Registry and is now primarily involved at a clinical and research level in the skeletal dysplasia field.

  • Céline Huber,

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    • Céline Huber is a research student who has been responsible for the molecular screening of SHOX mutations in dyschondrosteosis in the laboratory.

  • Arnold Munnich

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    • Arnold Munnich heads the Department of Medical Genetics and the research laboratory (U393) in Necker Enfants Malades Hospital.


Abstract

Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67–69; Shears et al., 1998: Nat Genet 19:70–73]. Here, we report the molecular analysis of a total of 23 DCS families including 16 previously reported pedigrees [Belin et al., 1998: Nat Genet 19:67–69; Huber et al., 2001: J Med Genet 38:281–284] and 7 novel DCS families. Linkage analyses in 21 of 23 families were consistent with linkage to the pseudoautosomal region. However, in 2 of 23 families, linkage studies excluded SHOX as the disease-causing gene, suggesting that this condition is genetically heterogeneous. © 2002 Wiley-Liss, Inc.

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