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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Nature Genetics volume 40, pages 287–289 (2008)Cite this article

Abstract

We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother–daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome.

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Figure 1: Clinical and molecular characterization of STAR syndrome.

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Acknowledgements

We thank the research subjects and their families for their participation, generosity and patience. We thank G. Scherer for critical discussion, P. Hermanns and B. Rösler for help with cell cultures, and C. Lich for technical assistance. J.K. received funding from the Deutsche Forschungsgemeinschaft (grant no. Ko1850/6-1,6-2).

Author information

Author notes

  1. Sheila Unger and Detlef Böhm: These authors contributed equally to this work.

Authors and Affiliations

  1. Institute of Human Genetics, University of Freiburg, Freiburg, Freiburg, D-79106, Germany

    Sheila Unger, Johann Böhm, Francisco Barrionuevo, Alexander Craig & Bernhard Zabel

  2. Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Freiburg, D-79106, Germany

    Sheila Unger, Bernhard Zabel & Andrea Superti-Furga

  3. Center for Human Genetics Freiburg, Freiburg, Freiburg, D-79100, Germany

    Detlef Böhm, Wiktor Borozdin & Jürgen Kohlhase

  4. Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, D-23538, Germany

    Frank J Kaiser

  5. Institut für Humangenetik, Universität Göttingen, Göttingen, D-37073, Germany

    Silke Kaulfuß & Peter Burfeind

  6. Institut für Humangenetik, Universitätsklinikum Essen, Essen, D-45122, Germany

    Karin Buiting

  7. Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, 52242, Iowa, USA

    Kristi Borowski & Kim Keppler-Noreuil

  8. Abteilung Neuropädiatrie, Kinderspital, Luzern, CH-6000, Switzerland

    Thomas Schmitt-Mechelke

  9. Institut für Medizinische Genetik, Universität Zürich, Schwerzenbach, CH-8603, Switzerland

    Bernhard Steiner, Deborah Bartholdi & Johannes Lemke

  10. Center for Medical Genetics, Ghent University Hospital, Ghent, B-9000, Belgium

    Geert Mortier

  11. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 OXY, UK

    Richard Sandford

Authors
  1. Sheila Unger
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  2. Detlef Böhm
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  3. Frank J Kaiser
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  4. Silke Kaulfuß
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  7. Peter Burfeind
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  8. Johann Böhm
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  9. Francisco Barrionuevo
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  10. Alexander Craig
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  13. Thomas Schmitt-Mechelke
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  14. Bernhard Steiner
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  15. Deborah Bartholdi
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  16. Johannes Lemke
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  18. Richard Sandford
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  19. Bernhard Zabel
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  20. Andrea Superti-Furga
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  21. Jürgen Kohlhase
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Contributions

S.U. contributed to the clinical evalutation of cases, syndrome delineation and subject enrollment in the study. D.B. performed array CGH, mutation analysis and qPCR. W.B. performed mutation analysis on MYCN, SALL1 and SALL4 and FAM58A breakpoint cloning. F.J.K. performed co-immunoprecipitation studies. K. Buiting performed X-chromosome inactivation studies. S.K. and P.B. performed cell culture studies, siRNA knockdown experiments and proliferation assays, and contributed to the manuscript. J.B., F.B. and A.C. cloned expression constructs and performed RT-PCR. K. Borowski, K.K.-N., G.M., T.S.-M., B.S., D. Bartholdi, R.S., B.Z., and A.S.-F contributed to subject enrollment and clinical evaluation. S.U., D.B., J.B., F.J.K., K.Bu., S.K., P.B., R.S., G.M. and A.S.-F. also contributed to the manuscript. J.K. oversaw all aspects of the research and wrote major parts of the manuscript.

Corresponding author

Correspondence to Jürgen Kohlhase.

Supplementary information

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Supplementary Note, Supplementary Methods, Supplementary Figures 1–6, Supplementary Table 1 (PDF 3653 kb)

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Unger, S., Böhm, D., Kaiser, F. et al. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 40, 287–289 (2008). https://doi.org/10.1038/ng.86

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