The discovery was published today on the Web site of the American Journal of Human Genetics.
Working with samples from 31 patients at Boston Children’s Hospital with various congenital vertebral defects, the team sequenced five genes thought to be involved in the malformations. In a patient of Puerto Rican descent, the team discovered a mutation in the MESP2 gene – a mutation that completely disrupted the function of the gene.
The affected patient had Spondylothoracic Dysostosis, also known as Jarcho-Levin Syndrome. Spondylothoracic Dysostosis is a rare genetic disorder characterized by distinctive malformations of the vertebrae and ribs, respiratory problems, and other abnormalities. Infants born with Spondylothoracic Dysostosis have short necks, limited neck motion, and are short in stature. Spondylothoracic Dysostosis is prevalent in the Puerto Rican population.
Sequencing of samples from additional Spondylothoracic Dysostosis patients of Puerto Rican descent demonstrated the same mutation in the MESP2 gene.
“Spondylothoracic Dysostosis was first characterized in the Puerto Rican population 70 years ago,” said Dr. Staehling-Hampton, co-equal first author on the paper, “but the gene mutation causing the condition was not isolated until now. The MESP2 mutation can be detected by a simple assay, so identification of this mutation will allow people who have a family history of Spondylothoracic Dysostosis to determine if they carry the mutation and whether they are at risk of passing the disorder on to future generations.”
“After working for many years to study spinal formation in chicks and mice, it is rewarding to expand our investigation to clinical applications,” said Dr. Pourquié, senior author on the publication. “We will continue to work with colleagues to collect more samples from patients with congenital vertebral abnormalities and sequence more genes to look for causative mutations. Additionally, we will sequence MESP2 in a larger collection of DNA samples from Puerto Rico to determine the carrier frequency of this MESP2 mutation in the general Puerto Rican population.”
Marie Jennings | EurekAlert!
Unique genome architectures after fertilisation in single-cell embryos
30.03.2017 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
Transport of molecular motors into cilia
28.03.2017 | Aarhus University
The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.
To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
30.03.2017 | Health and Medicine
30.03.2017 | Health and Medicine
30.03.2017 | Medical Engineering