NDLI: Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Please wait, while we are loading the content...

Neurogenetics : Volume 18

Neurogenetics : Volume 17

Neurogenetics : Volume 16

Neurogenetics : Volume 15

Neurogenetics : Volume 14

Neurogenetics : Volume 13

Neurogenetics : Volume 12

Neurogenetics : Volume 11

Neurogenetics : Volume 11, Issue 4, October 2010

Neurogenetics : Volume 11, Issue 3, July 2010

RNA processing pathways in amyotrophic lateral sclerosis

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Analysis of exon dosage using MLPA in South African Parkinson's disease patients

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Meta-analysis of association between variation in the PDE4D gene and ischemic cerebral infarction risk in Asian populations

Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controls

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy

L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

Questionable association between a monoamine oxidase A promoter polymorphism and sudden infant death syndrome

Neurogenetics : Volume 11, Issue 2, May 2010

Neurogenetics : Volume 11, Issue 1, February 2010

Neurogenetics : Volume 10

Neurogenetics : Volume 9

Neurogenetics : Volume 8

Neurogenetics : Volume 7

Neurogenetics : Volume 6

Neurogenetics : Volume 5

Neurogenetics : Volume 4

Neurogenetics : Volume 3

Neurogenetics : Volume 2

Neurogenetics : Volume 1

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Content Provider	Springer Nature Link
Author	Cukier, Holly N. Rabionet, Raquel Konidari, Ioanna Rayner Evans, Melissa Y. Baltos, Mary L. Wright, Harry H. Abramson, Ruth K. Martin, Eden R. Cuccaro, Michael L. Pericak Vance, Margaret A. Gilbert, John R.
Copyright Year	2009
Abstract	Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. We hypothesized that mutations in other members of the methyl-CpG-binding domain (MBD) family may also cause autistic features in individuals. We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. A total of 46 alterations were identified in the four genes, including ten missense changes and two deletions that alter coding sequence. Several are either unique to our autistic population or cosegregate with affected individuals within a family, suggesting a possible relation of these variations to disease etiology. Variants include a R23M alteration in two affected half brothers which falls within the MBD domain of the MBD3 protein, as well as a frameshift in MBD4 that is predicted to truncate almost half of the protein. These results suggest that rare cases of autism may be influenced by mutations in members of the dynamic MBD protein family.
Starting Page	291
Ending Page	303
Page Count	13
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	11
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2009-11-18
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Autism Rett syndrome MeCP2 Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics

The methyl-CpG-binding domain (MBD) is crucial for MeCP2’s dysfunction-induced defects in adult newborn neurons

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

Rett Syndrome and MeCP2

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

The Role of MeCP2 in the Brain

Mecp2 Truncation in Male Mice Promotes Affiliative Social Behavior

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Similar Documents

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics

The methyl-CpG-binding domain (MBD) is crucial for MeCP2’s dysfunction-induced defects in adult newborn neurons

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

Rett Syndrome and MeCP2

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

The Role of MeCP2 in the Brain

Mecp2 Truncation in Male Mice Promotes Affiliative Social Behavior

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals