Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf
2004年7月20日 · The diagnosis of Holt-Oram syndrome is established in a proband with either a preaxial radial ray anomaly and a personal or family history of cardiac septation and/or conduction defects or, if clinical findings are insufficient, a heterozygous pathogenic (or likely pathogenic) variant in TBX5 identified by molecular genetic testing (see Table 1).
Holt-Oram syndrome - MedlinePlus
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation).
Holt-Oram Syndrome - StatPearls - NCBI Bookshelf
2023年8月14日 · Holt Oram syndrome is an inherited disorder with an autosomal dominant trait. There appear to be mutations in TBX5, which is the transcription factor for the development of the upper limbs and heart. There should be high suspicion for Holt-Oram syndrome in individuals who present with a family history and/or the following malformations:
Holt-Oram syndrome | About the Disease | GARD - Genetic and …
Holt-Oram syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Holt-Oram syndrome: clinical and molecular description of 78 …
2018年12月14日 · Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome ...
Holt-Oram syndrome: clinical and molecular description of 78 …
2018年12月14日 · Several genes contribute to heart development. Although NKX2–5 and GATA4 have been associated with isolated CHD, their partner TBX5 is implicated in Holt-Oram syndrome (HOS) (MIM #142900).
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. 1–5 The gene for Holt-Oram syndrome has been identified as TBX5 on chromosome 12q24. 6–11TBX5 encodes a protein of 518 amino acids that belongs to the family of the T box...
Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt ...
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we pre …
Holt-Oram syndrome: a new mutation in the TBX5 gene in two …
2003年1月1日 · 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 …
Holt-Oram syndrome is caused by mutations in TBX5, a member …
We have identified six mutations, three in HOS families and three in sporadic HOS cases. Each of the mutations introduces a premature stop codon in the TBX5 gene product. Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic ...
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