A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability

American Journal of Medical Genetics. Part a
Ante KaroglanIna Schanze

Abstract

Interstitial deletions within the chromosomal region 2q24.2 have already been linked to intellectual disability (ID) in the past. In most cases the described patients showed a syndromic form of ID associated with large deletions containing multiple genes. Here we describe a family with two siblings with mild non-syndromic ID. They shared the same 564 kb deletion in the chromosomal region 2q24.2 containing only the TANK gene, which was inherited from the similarly affected father, thus suggesting haploinsufficiency of TANK as a novel cause of non-syndromic ID. TANK encodes the TRAF family member-associated NF-kappa-B activator (OMIM #603893), which is expressed in many tissues. It functions as an adapter protein that interacts with the NF-kappa-B pathway and SOX11, an essential transcription factor in regeneration, survival and differentiation of the neuronal system. TANK has not been linked to ID or other human diseases before. To further elucidate the role of TANK in non-syndromic ID, we screened a cohort of 288 TANK deletion negative non-syndromic mental retardation patients for TANK mutations without identifying any pathogenic variant.

References

Jun 1, 1994·Molecular and Cellular Biology·C KaltschmidtP A Baeuerle
Apr 15, 1996·Genes & Development·G Cheng, D Baltimore
Jun 1, 1997·Trends in Neurosciences·L A O'Neill, C Kaltschmidt
Sep 28, 2005·Journal of Molecular Neuroscience : MN·John F Staropoli, Asa Abeliovich
Jan 7, 2006·Cell Death and Differentiation·M P Mattson, M K Meffert
Nov 8, 2006·European Journal of Medical Genetics·C PescucciA Renieri
Dec 22, 2006·Nature Reviews. Molecular Cell Biology·Neil D Perkins
Apr 7, 2009·American Journal of Human Genetics·Helen V FirthNigel P Carter
Apr 2, 2010·American Journal of Medical Genetics. Part a·Shinichi TakatsukiToshiyuki Yamamoto
Jul 10, 2010·Proceedings of the National Academy of Sciences of the United States of America·Francesco BedogniRobert F Hevner
Jan 6, 2011·Epilepsia·Ana Cristina Victorino KrepischiCarla Rosenberg
Jan 8, 2011·European Journal of Medical Genetics·Chiara MagriSergio Barlati
May 24, 2011·Parkinson's Disease·Patrick M FloodJau-Shyong Hong
Nov 1, 2012·Molecular Syndromology·R N TraylorB C Ballif
Feb 28, 2013·American Journal of Medical Genetics. Part a·Lindsay C BurrageLuis M Franco
Jan 25, 2014·American Journal of Medical Genetics. Part a·Orazio PalumboTeresa Mattina
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Nov 7, 2017·Nucleic Acids Research·Jonathan CasperW James Kent

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.