Faculty Opinions recommendation of Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

2012 ◽  
Author(s):  
Mark Hallett ◽  
Aviva Ellenstein
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
Gene Identification ◽  
De Novo Mutations ◽  
Alternating Hemiplegia Of Childhood ◽  
Whole Exome

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

2012 ◽  
Vol 11 (9) ◽  
pp. 764-773 ◽  
Author(s):  
Hendrik Rosewich ◽  
Holger Thiele ◽  
Andreas Ohlenbusch ◽  
Ulrike Maschke ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
Gene Identification ◽  
De Novo Mutations ◽  
Alternating Hemiplegia Of Childhood ◽  
Whole Exome

scholarly journals Identification of a β-Arrestin 2 Mutation Related to Autism by Whole-Exome Sequencing

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Yunfei Tang ◽  
Yamei Liu ◽  
Lei Tong ◽  
Shini Feng ◽  
Dongshu Du ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Developmental Stages ◽  
De Novo ◽  
Repetitive Behavior ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Potential Contribution ◽  
De Novo Mutations ◽  
Whole Exome

Autism spectrum disorder (ASD) is a complex neurological disease characterized by impaired social communication and interaction skills, rigid behavior, decreased interest, and repetitive activities. The disease has a high degree of genetic heterogeneity, and the genetic cause of ASD in many autistic individuals is currently unclear. In this study, we report a patient with ASD whose clinical features included social interaction disorder, communication disorder, and repetitive behavior. We examined the patient’s genetic variation using whole-exome sequencing technology and found new de novo mutations. After analysis and evaluation, ARRB2 was identified as a candidate gene. To study the potential contribution of the ARRB2 gene to the human brain development and function, we first evaluated the expression profile of this gene in different brain regions and developmental stages. Then, we used weighted gene coexpression network analysis to analyze the associations between ARRB2 and ASD risk genes. Additionally, the spatial conformation and stability of the ARRB2 wild type and mutant proteins were examined by simulations. Then, we further established a mouse model of ASD. The results showed abnormal ARRB2 expression in the mouse ASD model. Our study showed that ARRB2 may be a risk gene for ASD, but the contribution of de novo ARRB2 mutations to ASD is unclear. This information will provide references for the etiology of ASD and aid in the mechanism-based drug development and treatment.

scholarly journals De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Nature ◽  
2012 ◽  
Vol 485 (7397) ◽  
pp. 237-241 ◽  
Author(s):  
Stephan J. Sanders ◽  
Michael T. Murtha ◽  
Abha R. Gupta ◽  
John D. Murdoch ◽  
Melanie J. Raubeson ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
De Novo Mutations ◽  
Whole Exome

scholarly journals Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype–phenotype correlations in the Chinese population

2020 ◽  
Vol 40 (12) ◽  
Author(s):  
Yuduo Wu ◽  
Hairui Sun ◽  
Jianbin Wang ◽  
Xin Wang ◽  
Ming Gong ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Marfan Syndrome ◽  
Whole Exome Sequencing ◽  
Chinese Population ◽  
De Novo ◽  
Low Frequency ◽  
Monogenic Disease ◽  
De Novo Mutations ◽  
Fbn1 Gene ◽  
Whole Exome

Abstract Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In the present study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation between FBNI gene mutation and MFS. Forty-four low-frequency harmful loci were identified for the FBN1 gene in HGMD database. In addition, 38 loci were identified in the same database that have not been related to MFS before. A strict filtering and screening protocol revealed two patients of the studied group have double mutations in the FBN1 gene. The two patients harboring the double mutations expressed a prominent, highly pathological phenotype in the affected family. In addition to the FBN1 gene, we also found that 27 patients had mutations in the PKD1 gene, however these patients did not have kidney disease, and 16 of the 27 patients expressed aortic related complications. Genotype-phenotype analysis showed that patients with aortic complications are older in the family, aged between 20 and 40 years.

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