Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome
نویسندگان
چکیده
منابع مشابه
Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.
The Holt-Oram syndrome (OMIM 142900) is an autosomal dominant disorder with clinical features characterised by a variety of skeletal malformations and congenital heart defects. The gene for Holt-Oram syndrome has been identified as TBX5 on chromosome 12q24. TBX5 encodes a protein of 518 amino acids that belongs to the family of the T box transcriptional factors, 11 and is expressed in embryonic...
متن کاملA novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and th...
متن کاملNovel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
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 3...
متن کاملIdentification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
H olt-Oram syndrome (HOS) (MIM 142900), first described by Holt and Oram in 1960, is characterised by malformations of the upper limbs involving mainly the pre-axial ray and variable cardiac defects, most of them septation defects. This autosomal dominant inherited condition occurs in approximately 1 in 100 000 live births and shows high penetrative and variable intrafamilial and interfamilial ...
متن کاملHorseshoe Lung Associated With Holt-Oram Syndrome
Horseshoe lung is an uncommon congenital malformation in which the bases of the right and the left lungs are fused to each other by a narrow isthmus posterior to the cardiac apex (1). There have been 52 case reports in the English literature. Holt-Oram syndrome is characterized by cardiac septation defects and preaxial radial ray abnormalities (2). To our knowledge, it is the first report of ho...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2003
ISSN: 0021-9258
DOI: 10.1074/jbc.m208120200