Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
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LETTER TO JMG Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS, MIM 180849) occurs in 1/125 000 births and is characterised by growth retardation and psychomotor developmental delay, broad and duplicated distal phalanges of the thumbs and halluces, typical facial dysmorphism, and an increased risk of neoplasia. RTS has been shown to be associated with chromosomal rearrangements in cytogenetic band 16p13.3, all involving the C...
متن کاملMolecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome (RTS, MIM 180849) occurs in 1/125 000 births and is characterised by growth retardation and psychomotor developmental delay, broad and duplicated distal phalanges of the thumbs and halluces, typical facial dysmorphism, and an increased risk of neoplasia. RTS has been shown to be associated with chromosomal rearrangements in cytogenetic band 16p13.3, all involving the C...
متن کاملNew CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
To the Editor : Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant disease (OMIM 180849), characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency (1). RTSs has been associated with creb binding protein (CBP ) mutations and less frequently with EP300 mutations (2). CBP and p300 have high homology and are critical for many signaling pathways, espe...
متن کاملThe Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome was first described in 1963. The main clinical features are mental retardation, broad thumbs and great toes, a characteristic facies, and a high-arched palate. Rubinstein and Taybi (1963) described 7 cases in the United States. Since then, small groups of patients and single examples of this syndrome have been reported in the United States (Coffin, 1964; Taybi and ...
متن کاملRubinstein-Taybi syndrome with scoliosis
STUDY DESIGN Case report. OBJECTIVE The authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis. SUMMARY OF BACKGROUND DATA There have been no reports on surgery for RSTS presenting scoliosis. METHODS The patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at pre...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.6.415