A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
نویسندگان
چکیده
منابع مشابه
A 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 Case of Holt - Oram Syndrome
SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...
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 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 کاملA novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function
BACKGROUND The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. METHODS AND RESULTS Genetic analysis revealed a so far unpublished TBX5 mu...
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ژورنال
عنوان ژورنال: Journal of Genetic Medicine
سال: 2012
ISSN: 1226-1769,2383-8442
DOI: 10.5734/jgm.2012.9.2.98