Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

@article{Wjcik2010RubinsteinTaybiSA,
  title={Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?},
  author={Cezary W{\'o}jcik and Kim Volz and Maria Sahlee Jessa Ranola and Karla Kitch and Tariza Karim and Joseph O'neil and Jodi L. Smith and Wilfredo Torres‐Martinez},
  journal={American Journal of Medical Genetics Part A},
  year={2010},
  volume={152A}
}
Rubinstein–Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2‐year‐old female with… Expand
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report
TLDR
The ability of array-based comparative genomic hybridization to offer a genome-wide analysis at high resolution and provide information directly linked to the physical and genetic maps of the human genome will contribute to more accurate genetic counseling and provide further insight into the syndrome. Expand
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
TLDR
Genotype–phenotype correlations revealed that patients with CRE BBP deletions extending beyond this gene did not always have a more severe phenotype than patients harboring CREBBP point mutations, suggesting that neighboring genes play only a limited role in the etiopathogenesis of CREBBp-centerd contiguous gene syndrome. Expand
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TLDR
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TLDR
It is hypothesized that CREBBP mutation identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia. Expand
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  • Medicine
  • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2018
TLDR
Clinical and genetic data from a cohort of 23 RSTS Italian patients are reported to improve neuropsychiatric and neuroradiological knowledge and highlight specific genotype‐phenotype correlations ofRubinstein–Taybi syndrome. Expand
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TLDR
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TLDR
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Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx
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TLDR
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References

SHOWING 1-10 OF 36 REFERENCES
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
TLDR
It is suggested that severe RSTS is distinct from R STS and represents a novel true contiguous gene syndrome (chromosome 16p13.3 deletion syndrome) and because of the risk of critical infections and high mortality rate, it is recommended that the size of the deletion interval should be determined in CREBBP deletion-positive patients with RSTs, especially in young children. Expand
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
TLDR
Diagnostic analysis of CBP is reported in 194 RTS patients, divided into several subsets, in one case the mother is also suspect of having RTS, and two point mutations, one 11 bp deletion, and one mutation affecting the splicing of the second exon were detected by subsequent sequencing. Expand
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
TLDR
The RT1 probe appears useful for confirmation of the diagnosis but is of little interest as a screening tool, and the frequency of approximately 12% deleted patients appears more accurate than the 25% previously reported. Expand
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
TLDR
The findings suggest a more severe phenotype of Rubinstein-Taybi syndrome and the signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome. Expand
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
TLDR
It is proposed that most EP300 mutations could be associated with other phenotypes, not classical RSTS, as it may be assumed that EP300 gene mutations should be as frequent as CREBBP gene mutations. Expand
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS
TLDR
The 56.6% detection rate of molecular mutations in CREBBP in patients with unequivocal RSTS supports the new concept that R STS is a genetically heterogeneous disorder and indicates that RSTs may be caused by gene/s other than CREBBp in up to 30% of cases. Expand
Rubinstein–Taybi syndrome: clinical and molecular overview
TLDR
The clinical presentation of Rubinstein–Taybi syndrome is described, the mutation spectrum is reviewed, and the current understanding of causative molecular mechanisms is discussed. Expand
Analysis of CBP (CREBBP) gene deletions in Rubinstein‐Taybi syndrome patients using real‐time quantitative PCR
TLDR
The results suggest that real‐time quantitative PCR is a useful technique to be included in the deletion search in RTS patients and identify deletions at the 3′ end of the gene that had been missed by FISH analysis, and to refine some deletion breakpoints. Expand
Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies.
  • J. Hou
  • Medicine
  • Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi
  • 2005
TLDR
The Rubinstein-Taybi syndrome is a rare but well-defined condition characterized by growth and mental retardation, broad thumb-hallux, and distinctive facial features, and the disease severity seemed to be correlated with size of the deletion. Expand
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
TLDR
It is shown that CREBBP dosage anomalies constitute a common cause of RTS, and CRE BBP high-resolution gene dosage search is therefore highly recommended for RTS diagnosis. Expand
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