BRPF1 -associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual developmentatlanto-axial malformationBRPF1 genedysmorphic featuresintellectual disabilityptosisIn 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings ...
[5] Mattioli F, Schaefer E, Magee A, et al. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. Am J Hum Genet. 2017;100(1):105-116. [6] Souza J, Do Valle DA, Santos M, et al. BRPF1-associated syndrome:...
A case report of IDDDFP syndrome caused by BRPF1 gene mutation 引用 收藏 分享 摘要 目的探讨BRPF1基因变异导致IDDDFP综合征患儿的临床及基因变异特点。方法回顾分析1例IDDDFP综合征患儿的临床资料及基因结果。结果患儿,男,于9月龄就诊,全面发育落后,肌张力低下,上睑下垂,双侧隐睾;Gesell...展开更多 Objective...
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice J. Clin. Invest., 121 (2011), pp. 3479-3491 View in ScopusGoogle Scholar 29. J. Clayton-Smith, J. O'Sullivan, S. Daly, S. Bhaskar, R. Day...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a disorder that includes juvenile polyposis as part of its pathologic spectrum, and it recently has been shown ... A Lowichik,FV White,CF Timmons,... - 《Pediatric & Developmental Pathology the Official Journal of the Society for Pediatric Pathology...
We also found a similar deficiency in different lines ofBrpf1-knockout mice. These data indicate that aberrations in the chromatin regulator geneBRPF1cause histone H3 acetylation deficiency and a previously unrecognized intellectual disability syndrome.doi:10.1016/j.ajhg.2016.11.011...
However, epilepsy was found to be rare in this syndrome. The syndrome has variable phenotypic features of neurodevelopmental disorders. Meanwhile, there seems to be a lack of correlation between phenotype and genotype. Conclusion: Our findings broaden the genotypic and phenotypic spectrum of individuals...
Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant syndrome manifesting with intellectual disability (ID), hypotonia, dysmorphic facial features, ptosis, and/or blepharophimosis in 22 individuals....
Conclusion: When comparing our findings with 39 previous reports, we found that the common clinical features of this syndrome, such as gross motor delay, hypotonia, and congenital spinal cord abnormalities, were not observed in this patient. From the seven genes implicated in the deletion, only...
A pathogenic de novo frameshift mutation in BRPF1, a gene which has been associated with the syndrome of Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), was identified during a post-mortem evaluation. The finding of a pathogenic variant in BRPF1, which has not ...