A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis
نویسندگان
چکیده
منابع مشابه
Holt-Oram syndrome revisited. Two patients in the same family.
Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculos...
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 کاملA genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report
Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...
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 کاملThe mutation spectrum in Holt-Oram syndrome.
EDITOR—Holt-Oram syndrome (HOS) is a developmental disorder characterised by malformations of the radial ray of the forelimb and by congenital heart disease. The syndrome shows a marked variability in phenotype, with radial ray defects ranging from minor thumb abnormality through to severe reduction defect or phocomelia. The cardiac manifestations of HOS are similarly varied, and patients can p...
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ژورنال
عنوان ژورنال: Journal of Tropical Pediatrics
سال: 2014
ISSN: 0142-6338,1465-3664
DOI: 10.1093/tropej/fmt109