Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

European Journal of Human Genetics : EJHG
Renzo GuerriniElena Parrini

Abstract

The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes. Mutation analysis of the TUBB2B gene was performed. We identified three new TUBB2B mutations in three unrelated patients (3 out of 128; 2.3%) with a diffuse and rather symmetrical cortical abnormality, including diffuse polymicrogyria in two and bilateral regional pachygyria in one. One patient harbored a p.Asp417Asn amino-acid substitution in the C-terminal domain of the protein; one patient a p.Asn256Ser amino-acid substitution in the intermediate domain and one patient a p.Leu117Pro amino-acid substitution in the N-terminal domain. The localization of each mutation within the secondary structure of the β2-tubulin polypeptide suggests that these mutations might alter the proper functions of microtubules. The phenotypic spectrum associated with TUBB2B mutations is wider than previously ...Continue Reading

References

Jul 24, 2002·Neurology·M M GuerreiroF Cendes
Mar 27, 2004·Science·Xianhua PiaoChristopher A Walsh
May 26, 2009·Nature Genetics·Xavier Hubert JaglinJamel Chelly
Oct 30, 2009·Trends in Genetics : TIG·Xavier H Jaglin, Jamel Chelly
Nov 10, 2009·American Journal of Human Genetics·Mohammad R AbdollahiEamonn Sheridan
Nov 4, 2010·Acta Neuropathologica·Gaëlle FriocourtAnnie Laquerrière

❮ Previous
Next ❯

Citations

Sep 6, 2012·European Journal of Human Genetics : EJHG·Karine PoirierNadia Bahi-Buisson
Jan 31, 2013·Brain : a Journal of Neurology·Thomas D CushionDaniela T Pilz
Feb 16, 2013·Brain : a Journal of Neurology·James Barkovich
May 27, 2014·Brain : a Journal of Neurology·Nadia Bahi-BuissonJamel Chelly
Jun 28, 2014·Neuroscience Bulletin·Guofa Liu, Trisha Dwyer
Jan 8, 2014·Developmental Medicine and Child Neurology·Romina RomanielloRenato Borgatti
May 28, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrew E FryDaniela T Pilz
Mar 19, 2013·Clinical Genetics·D AmromA C Jansen
Jul 2, 2015·Human Molecular Genetics·Renske OegemaDan Doherty
Jun 17, 2014·Lancet Neurology·Renzo Guerrini, William B Dobyns
Jul 11, 2014·Brain & Development·Romina RomanielloRenato Borgatti
Jul 26, 2014·Acta Neuropathologica Communications·Catherine Fallet-BiancoNadia Bahi-Buisson
Feb 2, 2019·The Neuroradiology Journal·Juliana JimenezMauricio Castillo
Jan 23, 2019·Cytoskeleton·Catherine L Pham, Naomi S Morrissette
Aug 7, 2019·PLoS Genetics·Elizabeth BittermannRolf W Stottmann
Nov 7, 2015·Molecular Brain·Jeffrey J MoffatWoo-Yang Kim
May 1, 2018·European Journal of Human Genetics : EJHG·Stefanie BrockAnna C Jansen
Jul 5, 2019·Cells·Romina RomanielloRenato Borgatti
Oct 9, 2020·International Journal of Molecular Sciences·Antonella SferraEnrico Bertini
Oct 17, 2020·FEBS Letters·Geneviève Fourel, Cécile Boscheron
Jun 4, 2021·Annual Review of Vision Science·Mary C Whitman

❮ 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.

Related Papers

European Journal of Human Genetics : EJHG
Karine PoirierNadia Bahi-Buisson
Brain : a Journal of Neurology
Thomas D CushionDaniela T Pilz
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Ginevra ZanniEnrico Bertini
© 2022 Meta ULC. All rights reserved