A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Vorasuk ShotelersukSurasawadee Ausavarat

Abstract

Craniofrontonasal syndrome (CFNS) is an X-linked disorder whose main clinical manifestations include coronal craniosynostosis and frontonasal dysplasia. Very recently, CFNS was shown to be caused by mutations in EFNB1 encoding ephrin-B1, and 20 mutations have been described. We report a Thai woman with CFNS, in whom a novel mutation was discovered: c.685_686insG, in exon 5 of EFNB1. It is the first insertion and the most 3' point mutation in EFNB1 reported to date. The mutation is expected to result in a truncated ephrin-B1 of 230 amino acids, composed of a nearly complete extracellular part of ephrin-B1 with no transmembrane and cytoplasmic domains. This truncated protein might become a soluble form of the ligand, which previously was shown to be able to bind to receptors, but fail to cluster and to activate them--in other words, acting as a dominant negative protein. Nonetheless, further studies to detect the protein are needed to substantiate the hypothesis.

References

Nov 1, 1992·European Journal of Pediatrics·L KapustaB C Hamel
Jan 11, 1996·American Journal of Medical Genetics·D SaavedraM M Cohen
Jul 13, 2002·American Journal of Medical Genetics·Julie McGaughranMalcom Battin
Dec 14, 2002·The International Journal of Biochemistry & Cell Biology·Juha-Pekka Himanen, Dimitar B Nikolov
May 5, 2004·American Journal of Human Genetics·Ilse WielandPeter Wieacker
May 29, 2004·Proceedings of the National Academy of Sciences of the United States of America·Stephen R F TwiggAndrew O M Wilkie

❮ Previous
Next ❯

Citations

Jun 23, 2010·BMC Medical Genetics·Roman MakarovIlse Wieland
Nov 4, 2009·Critical Reviews in Eukaryotic Gene Expression·Brendan F BoyceLianping Xing
Nov 28, 2013·European Journal of Human Genetics : EJHG·M E P van den ElzenI M J Mathijssen
Aug 10, 2007·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·P J De CosterL C Martens
Jul 16, 2008·American Journal of Medical Genetics. Part a·Deeann WallisMaximilian Muenke
Jul 17, 2015·Plastic and Reconstructive Surgery. Global Open·Bharesh K ChauhanKen K Nischal
Dec 9, 2014·Clinical Dysmorphology·Berk ÖzylmazÖnder Kalenderer
Jul 20, 2016·PloS One·Manman ShenNing Yang
May 27, 2017·The Journal of Craniofacial Surgery·Min GeXiongzheng Mu
Feb 1, 2017·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Yoshikazu InoueTakayuki Okumoto

❮ 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.

© 2021 Meta ULC. All rights reserved