Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
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چکیده
منابع مشابه
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome.
EDITOR—Although point mutations are responsible for many genetic disorders, it is increasingly being appreciated that many disorders can be caused by deletion or duplication of DNA sequences. Alterations in DNA copy number are responsible for several categories of disorders and can range in scale from a chromosome or chromosomal region to just one exon of a single gene. For instance, duplicatio...
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 کاملHolt-Oram syndrome in a Maltese family.
Introduction Holt & Oram (1960) linked various skeletal abnormalities with congenital heart disease in four generations of a family. In particular, malformations of the hands were associated with atrial septal defect (secundum type) and bizarre arrhythmias. In 1961, McKusick described a similar syndrome in a mother and daughter and suggested the term 'atrio-digital dysplasia'. Harris & Osborne ...
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 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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2001
ISSN: 1468-6244
DOI: 10.1136/jmg.38.12.e44