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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

45 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Nature Genetics
Jahrgang	40
Ausgabenummer	3
Seiten (von - bis)	287-289
Seitenumfang	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.86
Publikationsstatus	Veröffentlicht - 01.01.2008

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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).

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SDG 3 – Gesundheit und Wohlergehen

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Querschnittsbereich: Medizinische Genetik

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10.1038/ng.86

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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

@article{02c209208bc048acbad32ce3666bdf8c,

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.",

author = "Sheila Unger and Detlef B{\"o}hm and Kaiser, \{Frank J.\} and Silke Kaulfu{\ss} and Wiktor Borozdin and Karin Buiting and Peter Burfeind and Johann B{\"o}hm and Francisco Barrionuevo and Alexander Craig and Kristi Borowski and Kim Keppler-Noreuil and Thomas Schmitt-Mechelke and Bernhard Steiner and Deborah Bartholdi and Johannes Lemke and Geert Mortier and Richard Sandford and Bernhard Zabel and Andrea Superti-Furga and J{\"u}rgen Kohlhase",

year = "2008",

month = jan,

day = "1",

doi = "10.1038/ng.86",

language = "English",

volume = "40",

pages = "287--289",

journal = "Nature Genetics",

issn = "1061-4036",

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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, Jg. 40, Nr. 3, S. 287-289. https://doi.org/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. / Unger, Sheila; Böhm, Detlef; Kaiser, Frank J. et al.
in: Nature Genetics, Jahrgang 40, Nr. 3, 01.01.2008, S. 287-289.

Publikation: Beiträge in Fachzeitschriften › Zeitschriftenaufsätze › Forschung › Begutachtung

TY - JOUR

T1 - Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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

Y1 - 2008/1/1

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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U2 - 10.1038/ng.86

DO - 10.1038/ng.86

M3 - Journal articles

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AN - SCOPUS:39749126187

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JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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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