TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome
نویسندگان
چکیده
منابع مشابه
Holt-Oram syndrome: a clinical genetic study.
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal def...
متن کاملNovel 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 کاملProstate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome.
متن کاملAtrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome.
Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt–Oram Syndrome To the editor: We were pleased to read the recent study in Circulation Research by Postma et al1 that describes an activation mutation in TBX5 that causes Holt–Oram syndrome. These exciting findings validate prior studies (reviewed elsewhere2) showing that cytogenetic abnormalities that pr...
متن کاملHolt-Oram syndrome.
A29-year-old woman presented with dizziness. Physical and radiographic examinations showed skeletal hand malformations, ie, digitalized triphalangeal thumbs and dystrophy of the carpal bones. When she was 15 years old, an atrial septal defect had been repaired. ECG recordings showed abnormalities of atrial excitation such as a wandering pacemaker, atrial ectopic activity, AV-nodal block, and si...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2005
ISSN: 0031-3998,1530-0447
DOI: 10.1203/01.pdr.0000182593.95441.64