title: Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
abstract: This paper reviews the molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. First, we review all previously reported cases with these mutations, and then describe the pathogenesis of the clinical features in the heart and upper limb. Special emphasis is given to 'non-classic' upper limb features which are known to occur with these mutations. Finally, the molecular basis of other concurrent anomalies (chest wall, craniofacial, vertebral, and lung anomalies) is reviewed.
authors: Division of Plastic Surgery and Hand Surgery, King Saud University, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: moqattan@hotmail.com.
authors: Mohammad M
authors: MM
authors: Al-Qattan
authors: Division of Plastic Surgery and Hand Surgery, King Saud University, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors: Hussam
authors: H
authors: Abou Al-Shaar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D020440:Gene Duplication; D056726:Genetic Association Studies; D006329:Heart Conduction System / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D020825:T-Box Domain Proteins / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics* / Q000473:pathology
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5
keywords: Holt–Oram syndrome; Missense mutation; Pathogenesis; TBX5