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Refined mapping of the gene for otopalatodigital syndrome type I
  1. T Kosho1,
  2. T Uemura2,
  3. M Tanimura3,
  4. H Ohashi4,
  5. K Muroya1,5,
  6. T Ogata1,5
  1. 1Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan
  2. 2Division of Plastic Surgery, Saint Maria Hospital, Kurume, Japan
  3. 3Department of Child Ecology, National Children's Medical Research Centre, Tokyo Japan
  4. 4Division of Medical Genetics, Saitama Children's Medical Centre, Iwatsuki, Japan
  5. 5Department of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan
  1. Correspondence to:
 Dr T Ogata, Department of Paediatrics, Keio University School of Medicine, Tokyo, Japan;
 t-ogata{at}po.iijnet.or.jp

https://doi.org/10.1136/jmg.39.2.e7

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    Otopalatodigital syndrome type I (OPD-I) (MIM 31130) is a rare X linked disorder characterised by a peculiar face with supraorbital ridges, flat nasal bridge, hypertelorism, micrognathia, and cleft palate (pugilistic face) and by hand and foot deformities with spatulate distal digits and short first digits arising from the second digits (tree frog hands and feet), together with conductive deafness, short stature, and mild mental retardation.1,2 Affected males invariably have a distinct phenotype, and heterozygous carrier females frequently exhibit a mild phenotype with an estimated penetrance of ∼80%.3–5

    The gene for OPD-I has been mapped to the Xq27-28 region by linkage analyses in two families. Hoar et al6 localised the OPD-I gene to a region distal to DXS100 on Xq25, with a maximum lod score of 1.20 at θ=0 for DXS86 on Xq26 and for DXS304 and DXS15 on Xq28. Biancalana et al5 assigned the OPD-I gene to a region distal to DXS539 on Xq27, with a maximum lod score of 1.99 at θ=0 for DXS305 and DXS52 on Xq28, and excluded …

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