A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Por um escritor misterioso
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.
Novel heterozygous variants in the EP300 gene cause Rubinstein
Genes, Free Full-Text
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome
From Whole Gene Deletion to Point Mutations of EP300‐Positive
Mutation spectrum of CREBBP and EP300 in RSTS individuals
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Genes, Free Full-Text
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Figure 2 from A case of Rubinstein-Taybi Syndrome with a CREB
Mosaic CREBBP mutation causes overlapping clinical features of
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
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