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

Sheila Unger; Detlef Böhm; Frank J. Kaiser; Silke Kaulfuß; Wiktor Borozdin; Karin Buiting; Peter Burfeind; Johann Böhm; Francisco Barrionuevo; Alexander Craig; Kristi Borowski; Kim Keppler-Noreuil; Thomas Schmitt-Mechelke; Bernhard Steiner; Deborah Bartholdi; Johannes Lemke; Geert Mortier; Richard Sandford; Bernhard Zabel; Andrea Superti-Furga; Jürgen Kohlhase

doi:10.1038/ng.86

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

Sheila Unger, Detlef Böhm, Frank J. Kaiser, Silke Kaulfuß, Wiktor Borozdin, Karin Buiting, Peter Burfeind, Johann Böhm, Francisco Barrionuevo, Alexander Craig, Kristi Borowski, Kim Keppler-Noreuil, Thomas Schmitt-Mechelke, Bernhard Steiner, Deborah Bartholdi, Johannes Lemke, Geert Mortier, Richard Sandford, Bernhard Zabel, Andrea Superti-FurgaJürgen Kohlhase^*

^*Corresponding author for this work

Institute of Human Genetics

45 Citations (Scopus)

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.

Original language	English
Journal	Nature Genetics
Volume	40
Issue number	3
Pages (from-to)	287-289
Number of pages	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.86
Publication status	Published - 01.01.2008

Funding

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).

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Research Area: Medical Genetics

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Unger, S., Böhm, D., Kaiser, F. J., Kaulfuß, S., Borozdin, W., Buiting, K., Burfeind, P., Böhm, J., Barrionuevo, F., Craig, A., Borowski, K., Keppler-Noreuil, K., Schmitt-Mechelke, T., Steiner, B., Bartholdi, D., Lemke, J., Mortier, G., Sandford, R., Zabel, B., ... Kohlhase, J. (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3), 287-289. https://doi.org/10.1038/ng.86

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

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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Unger, S, Böhm, D, Kaiser, FJ, Kaulfuß, S, Borozdin, W, Buiting, K, Burfeind, P, Böhm, J, Barrionuevo, F, Craig, A, Borowski, K, Keppler-Noreuil, K, Schmitt-Mechelke, T, Steiner, B, Bartholdi, D, Lemke, J, Mortier, G, Sandford, R, Zabel, B, Superti-Furga, A & Kohlhase, J 2008, 'Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations', Nature Genetics, vol. 40, no. 3, pp. 287-289. https://doi.org/10.1038/ng.86

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AU - Unger, Sheila

AU - Böhm, Detlef

AU - Kaiser, Frank J.

AU - Kaulfuß, Silke

AU - Borozdin, Wiktor

AU - Buiting, Karin

AU - Burfeind, Peter

AU - Böhm, Johann

AU - Barrionuevo, Francisco

AU - Craig, Alexander

AU - Borowski, Kristi

AU - Keppler-Noreuil, Kim

AU - Schmitt-Mechelke, Thomas

AU - Steiner, Bernhard

AU - Bartholdi, Deborah

AU - Lemke, Johannes

AU - Mortier, Geert

AU - Sandford, Richard

AU - Zabel, Bernhard

AU - Superti-Furga, Andrea

AU - Kohlhase, Jürgen

PY - 2008/1/1

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N2 - 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.

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

Abstract

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