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Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. 总被引:10,自引:0,他引:10
B G Bruneau M Logan N Davis T Levi C J Tabin J G Seidman C E Seidman 《Developmental biology》1999,211(1):100-108
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Porto MP Vergani N Carvalho AC Cernach MC Brunoni D Perez AB 《Genetics and molecular biology》2010,33(2):232-236
The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for mutations, by direct sequencing, in 32 unrelated patients presenting classical (8) or atypical HOS (1), isolated congenital heart defects (16) or isolated upper-limb malformations (7). Pathogenic mutations in the TBX5 gene were found in four HOS patients, including two new mutations (c.374delG; c.678G > T) in typical patients, and the hotspot mutation c.835C > T in two patients, one of them with an atypical HOS phenotype involving lower-limb malformations. Two new mutations in the GATA4 gene were found in association with isolated upper-limb malformations, but their clinical significance remains to be established. A previously described possibly pathogenic mutation in the NKX2.5 gene (c.73C > 7) was detected in a patient with isolated heart malformations and also in his clinically normal father. 相似文献
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Tbx5 is essential for heart development 总被引:11,自引:0,他引:11
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Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy 总被引:8,自引:1,他引:7 下载免费PDF全文
Kirk EP Sunde M Costa MW Rankin SA Wolstein O Castro ML Butler TL Hyun C Guo G Otway R Mackay JP Waddell LB Cole AD Hayward C Keogh A Macdonald P Griffiths L Fatkin D Sholler GF Zorn AM Feneley MP Winlaw DS Harvey RP 《American journal of human genetics》2007,81(2):280-291
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Jenher Lu Tzuchun Tsai Sielin Choo Shuyu Yeh Renbing Tang Anhang Yang Hsinyu Lee Jennkan Lu 《Journal of biomedical science》2011,18(1):73
Background
The tbx5 mutation in human causes Holt-Oram syndrome, an autosomal dominant condition characterized by a familial history of congenital heart defects and preaxial radial upper-limb defects. We report aberrant apoptosis and dormant cell growth over head, heart, trunk, fin, and tail of zebrafish embryos with tbx5 deficiency correspond to the dysmorphogenesis of tbx5 morphants. 相似文献15.
Developmental regulation of Tbx5 in zebrafish embryogenesis 总被引:1,自引:0,他引:1
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Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS. 相似文献