Descrição
Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. Methods Case report of a 9-year-old boy. Results We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain. Conclusions This findings in our patient add to the spectrum of genetic variants described in Rubinstein–Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)
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Figure 2 from A case of Rubinstein-Taybi Syndrome with a CREB
Insights into genotype–phenotype correlations from CREBBP point
Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
PDF) Rubinstein-Taybi syndrome medical guidelines
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