NDLI: Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Content Provider	PubMed Central
Author	Philippe, Orianne Rio, Marlène Astrid, Carioux Plaza, Jean-marc Guigue, Philippe Molinari, Florence Boddaert, Nathalie Christine, Bole-feysot Nitschke, Patrick Asma, Smahi Munnich, Arnold Laurence, Colleaux
Copyright Year	2009
Abstract	Autosomal-recessive inheritance accounts for nearly 25% of nonsyndromic mental retardation (MR), but the extreme heterogeneity of such conditions markedly hampers gene identification. Combining autozygosity mapping and RNA expression profiling in a consanguineous Tunisian family of three MR children with mild microcephaly and white-matter abnormalities identified the TRAPPC9 gene, which encodes a NF-κB-inducing kinase (NIK) and IκB kinase complex β (IKK-β) binding protein, as a likely candidate. Sequencing analysis revealed a nonsense variant (c.1708C>T [p.R570X]) within exon 9 of this gene that is responsible for an undetectable level of TRAPPC9 protein in patient skin fibroblasts. Moreover, TNF-α stimulation assays showed a defect in IkBα degradation, suggesting impaired NF-κB signaling in patient cells. This study provides evidence of an NF-κB signaling defect in isolated MR.
Related Links	http://dx.doi.org/10.1016/j.ajhg.2009.11.007
Ending Page	908
Page Count	6
Starting Page	903
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	6
Volume Number	85
Language	English
Publisher	Elsevier
Publisher Date	2009-12-01
Access Restriction	Open
Rights Holder	Elsevier
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics 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

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation

Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Similar Documents

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation

Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation