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Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28

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Summary

The oto-palado-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.

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References

  • André M, Cigneron J, Didier F (1981) Abnormal facies, cleft palate and generalized dysostosis: a lethal X-linked syndrome. J Pediatr 98:747–752.

    Google Scholar 

  • Feil R, Palmieri G, d'Urso M, Heilig R, Oberlé I, Mandel JL (1990) Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52 and DXS134): analysis of a cosmid clone and a yeast artificial chromosome. Am J Hum Genet 46:720–728.

    Google Scholar 

  • Fitch N, Jequier S, Papageorgion A (1976) A familial syndrome of cranial, oral and limb anomalies. Clin Genet 10:226–231.

    Google Scholar 

  • Fitch N, Jequier S, Gorlin R (1983) The oto-palato-digital syndrome, proposed type II. Am J Med Genet 15:655–664.

    Google Scholar 

  • Gall JC, Stern AM, Poznanski AK, Garn SM, Weinstein ED, Hayward JR (1972) Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females. Am J Hum Genet 24:24–36.

    Google Scholar 

  • Hoo JJ, Hoar DI, Field LL, Beards F, Hoganson G, Rollnick B (1991) Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (q26-q28). Adv Gene Technol 1:11.

    Google Scholar 

  • Hurk JAJM van den, Dreesen JCFM, Berg H van den, Bennekom CA van, Ouweland AMW van den, Oost BA van (1991) Two polymorphisms at the DXS539 locus. Nucleic Acids Res 19:1723.

    Google Scholar 

  • Kozlowsky K, Turner G, Scougall J, Harrington (1977) Otopalato-digital syndrome with severe X-ray changes in two half brothers. Pediatr Radiol 6:97–102.

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482–498.

    Google Scholar 

  • Le Marec B, Odent S, Bracq E, Bulard MB, Bourdiniere J, Babut JM (1988) Syndrome oto-palato-digital de type I atteignant cinq générations. Relations avec la forme de type II. Ann Génét (Paris) 31:155–161.

    Google Scholar 

  • Oberlé I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL (1986) Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet 72:43–49.

    Google Scholar 

  • Oberlé I, Camerino G, Wrogemann K, Arveiler B, Hanauer A, Raimondi E, Mandel JL (1987) Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Hum Genet 77:60–65.

    Google Scholar 

  • Patterson MN, Bell MV, Bloomfield J, Flint T, Dorkins H, Thibodeau SN, Schaid D, Bren G, Schwartz CE, Wieringa B, Ropers HH, Callen DF, Sutherland G, Froster-Iskenius U, Vissing H, Davies KE (1989) Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics 4:570–578.

    Google Scholar 

  • Pazzaglia UE, Beluffi G (1986) Oto-palato-digital syndrome in four generations of a large family. Clin Genet 30:338–344.

    Google Scholar 

  • Vincent A, Kretz C, Oberlé I, Mandel JL (1989) A new polymorphic marker very closely linked to DXS52 in teh q28 region of the human X chromosome. Hum Genet 82:85–86.

    Google Scholar 

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Authors and Affiliations

  1. INSERM Unité 184, Université Louis Pasteur, 11, Rue Humann, F-67085, Strasbourg Cedex, France

    V. Biancalana & A. Hanauer

  2. Service de Pédiatrie Génétique Médicale, CHU Rennes, Rue Henri-Le Guillou, F-35000, Rennes Cedex, France

    B. Le Marec & S. Odent

  3. Department of Human Genetics, University of Nijmegen, NL-6500, HB Nijmegen, The Netherlands

    J. A. M. J. van den Hurk

Authors
  1. V. Biancalana
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  2. B. Le Marec
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  3. S. Odent
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  4. J. A. M. J. van den Hurk
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  5. A. Hanauer
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Biancalana, V., Le Marec, B., Odent, S. et al. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28. Hum Genet 88, 228–230 (1991). https://doi.org/10.1007/BF00206078

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  • DOI: https://doi.org/10.1007/BF00206078

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