Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved..
Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2012 |
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| Erschienen: |
2012 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:90 |
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| Enthalten in: |
American journal of human genetics - 90(2012), 3 vom: 09. März, Seite 494-501 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zankl, Andreas [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 13.07.2012 Date Revised 21.10.2021 published: Print-Electronic ErratumIn: Am J Hum Genet. 2014 Apr 3;94(4):643 Citation Status MEDLINE |
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| doi: |
10.1016/j.ajhg.2012.01.003 |
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| PPN (Katalog-ID): |
NLM215913876 |
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| 100 | 1 | |a Zankl, Andreas |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB |
| 264 | 1 | |c 2012 | |
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| 500 | |a Date Completed 13.07.2012 | ||
| 500 | |a Date Revised 21.10.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a ErratumIn: Am J Hum Genet. 2014 Apr 3;94(4):643 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a MAFB protein, human |2 NLM | |
| 650 | 7 | |a MafB Transcription Factor |2 NLM | |
| 700 | 1 | |a Duncan, Emma L |e verfasserin |4 aut | |
| 700 | 1 | |a Leo, Paul J |e verfasserin |4 aut | |
| 700 | 1 | |a Clark, Graeme R |e verfasserin |4 aut | |
| 700 | 1 | |a Glazov, Evgeny A |e verfasserin |4 aut | |
| 700 | 1 | |a Addor, Marie-Claude |e verfasserin |4 aut | |
| 700 | 1 | |a Herlin, Troels |e verfasserin |4 aut | |
| 700 | 1 | |a Kim, Chong Ae |e verfasserin |4 aut | |
| 700 | 1 | |a Leheup, Bruno P |e verfasserin |4 aut | |
| 700 | 1 | |a McGill, Jim |e verfasserin |4 aut | |
| 700 | 1 | |a McTaggart, Steven |e verfasserin |4 aut | |
| 700 | 1 | |a Mittas, Stephan |e verfasserin |4 aut | |
| 700 | 1 | |a Mitchell, Anna L |e verfasserin |4 aut | |
| 700 | 1 | |a Mortier, Geert R |e verfasserin |4 aut | |
| 700 | 1 | |a Robertson, Stephen P |e verfasserin |4 aut | |
| 700 | 1 | |a Schroeder, Marie |e verfasserin |4 aut | |
| 700 | 1 | |a Terhal, Paulien |e verfasserin |4 aut | |
| 700 | 1 | |a Brown, Matthew A |e verfasserin |4 aut | |
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