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Literature DB >> 29907757

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Ruth Richardson¹, Miranda Splitt², Ruth Newbury-Ecob^3,4, Alice Hulbert⁵, Joanna Kennedy^3,4, Astrid Weber⁵.

Abstract

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2018 PMID： 29907757 PMCID： PMC6117329 DOI： 10.1038/s41431-018-0199-y

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

20 in total

1. SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

Authors: Justin W Leung; Andrea Leitch; Jamie L Wood; Charles Shaw-Smith; Kay Metcalfe; Louise S Bicknell; Andrew P Jackson; Junjie Chen
Journal: J Biol Chem Date: 2011-04-22 Impact factor: 5.157

2. Negative regulation of neuronal cell differentiation by INHAT subunit SET/TAF-Iβ.

Authors: Dong-Wook Kim; Kee-Beom Kim; Ji-Young Kim; Kyu-Sun Lee; Sang-Beom Seo
Journal: Biochem Biophys Res Commun Date: 2010-08-26 Impact factor: 3.575

3. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

Authors: Isabel Filges; Keiko Shimojima; Nobuhiko Okamoto; Benno Röthlisberger; Peter Weber; Andreas R Huber; Tsutomu Nishizawa; Alexandre N Datta; Peter Miny; Toshiyuki Yamamoto
Journal: J Med Genet Date: 2010-10-30 Impact factor: 6.318

4. The Deciphering Developmental Disorders (DDD) study.

Authors: Helen V Firth; Caroline F Wright
Journal: Dev Med Child Neurol Date: 2011-06-17 Impact factor: 5.449

5. The SET protein regulates G2/M transition by modulating cyclin B-cyclin-dependent kinase 1 activity.

Authors: Núria Canela; Aina Rodriguez-Vilarrupla; Josep Maria Estanyol; Carmen Diaz; María Jesús Pujol; Neus Agell; Oriol Bachs
Journal: J Biol Chem Date: 2002-10-28 Impact factor: 5.157

6. Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.

Authors: M von Lindern; S van Baal; J Wiegant; A Raap; A Hagemeijer; G Grosveld
Journal: Mol Cell Biol Date: 1992-08 Impact factor: 4.272

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

1. SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.

2. Negative regulation of neuronal cell differentiation by INHAT subunit SET/TAF-Iβ.

3. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

4. The Deciphering Developmental Disorders (DDD) study.

5. The SET protein regulates G2/M transition by modulating cyclin B-cyclin-dependent kinase 1 activity.

6. Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.

7. Characterising and predicting haploinsufficiency in the human genome.

8. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

9. The expression and distributions of ANP32A in the developing brain.

10. Prevalence and architecture of de novo mutations in developmental disorders.

1. Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development.

2. Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain.