Navigation Links
Researchers at Cruces Hospital describe new syndrome of slight family intellectual disability
Date:9/26/2011

The financial contributions made some years ago by individuals and public administration bodies in the telemarathon solidarity events on the Basque Public Broadcasting Corporation (EiTB) and subsequently channelled through the Basque Foundation for Health Innovation and Research (BIOEF), has resulted in undertaking successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Bizkaia, describing a new syndrome of limited family intellectual disability.

The team led by geneticist Isabel Tejada described for the first time to the world that the duplication of the RPS6KA3 gene produces a limited intellectual disability in asymptomatic mothers who are carriers. This gene is found on the X chromosome, and one that has made the genetics laboratory at the Bizkaian hospital a reference at an international level. The complete research was published in the scientific journal Paediatrics.

This discovery turns out to be especially relevant because, although the genetic causes of serious intellectual disability has a wealth of research literature, "in cases of slight or limited intellectual disability, the genetic causes are only known in a small percentage of cases", pointed out Ms Tejada, in charge of the Molecular Genetics Laboratory at the Cruces Hospital and the research leader.

The research was initiated when a mother attended a neuropaediatric clinic with a child who had psychomotor retardation which he had had since the first year of life, "although without any facial dysmorphia or associated anomalies", and was referred to the genetics laboratory for case study. The patient had two maternal uncles who also had psychomotor impairment and who had been unable to complete primary school education, although they lived self-sufficiently.

"A karyotype or chromosomal X-fragile syndrome and a molecular study" were carried out on the patient. But, in the absence of a positive result being registered for
'/>"/>

Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

Page: 1 2

Related biology news :

1. UCLA researchers develop system that finds prostate cancer spread earlier than conventional imaging
2. Joslin researchers identify pathways leading to activation of good fat
3. Kansas researchers find enriched infant formulas benefit brain and heart
4. Researchers sequence dark matter of life
5. Researchers discover a switch that controls stem cell pluripotency
6. MU researchers unveil new method for detecting lung cancer in Nature article
7. Notre Dame researchers demonstrate antibiotic sensing event central to MSRA antibiotic resistance
8. Researchers uncover a potential new benefit of pure maple syrup on liver health
9. EPA grants help Wayne State researchers stave off Great Lakes environmental invaders
10. UTHealth, BCM researchers find common gene variant associated with aortic dissection
11. Researchers find high levels of toxic PCBs in Indiana Harbor and Ship Canal
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/12/2014)... GARDENS, Fla. , Nov. 12, 2014 ... announced today that its U.are.U ® fingerprint readers ... bakery chain in Central Mexico . ... June 2014 to eliminate payroll issues caused by employees ... to installing the U.are.U fingerprint readers, Montparnasse relied on ...
(Date:11/7/2014)... Debra Auguste, associate professor, biomedical engineering, in the ... of New York, have identified a molecule that ... the most aggressive forms of breast cancer. , ... mortality rate owing to aggressive proliferation and metastasis ... Professor Auguste,s team, discovered the overexpression of intercellular ...
(Date:11/6/2014)... A groundbreaking paper from a team of Florida State ... how plants could adapt to and survive environmental swings ... in the latest issue of the journal The ... complex of DNA and proteins) is organized in a ... some genes are turned on and others are turned ...
Breaking Biology News(10 mins):Montparnasse Pasteleria Achieves Time and Attendance Transparency with Crossmatch U.are.U Fingerprint Readers 2Maize analysis yields whole new world of genetic science 2
... of vertebrates sometimes assist a more dominant pair by ... has been shown to occur among subordinate female cichlids. ... ONE , Dik Heg and colleagues at the University ... that rather than engaging in an act of reciprocal ...
... Norman Ellstrand , a professor of genetics in UC ... been elected as one of this year,s four Botanical ... The BSA Merit Award is the society,s highest honor, ... scientists in plant biology. Some past Merit Award recipients have ...
... Princeton University,s third Art of Science competition will go live ... allows members of the public to choose their favorite 2009 ... time. The juried show features 48 works chosen from ... found here: www.princeton.edu/artofscience/2009 The theme of ...
Cached Biology News:The importance of being helpful -- Cooperative cichlids boost their own reproductive success 2UC Riverside geneticist receives highest honor from Botanical Society of America 2Exhibition showcases the 'art of science' 2Exhibition showcases the 'art of science' 3
(Date:11/26/2014)... (PRWEB) November 26, 2014 On January, ... the Baltimore and Washington D.C. science community to the ... The event, sponsored by the Protein Society, will take ... University Center, Room 312. Through discussion, presentations and ... structural importance of proteins, their role in the industry ...
(Date:11/26/2014)... Silicon Valley Electronic Data Capture (EDC) provider ... , provider of clinical research and data management services ... to its CRO Partnership Program, Clinovo expands ClinCapture ... , “We have found Clinovo’s ClinCapture to exceed ... which is both user friendly and easy to deploy. ...
(Date:11/26/2014)... November 26, 2014 SoundConnect , ... is proud to announce that Darren Suders has joined ... Darren will drive the partner program ... experience. , Darren brings more than 10-years ... key roles in channel operations, from policy development, to ...
(Date:11/26/2014)... , 25 novembre 2014 /PRNewswrie/ -- Theravalues Corporation annuncia ... mercato europeo in occasione di Hi Europe 2014 (dal ... Si tratta della curcumina con la maggiore ... (senza cristalli) e ingredienti approvati dalle norme europee. ... spezia della pianta curcumina ( Curcuma longa ) che ...
Breaking Biology Technology:RPM Alliance Joins Clinovo’s CRO Partnership Program, Further Strengthening Its Presence in Southern California and India 2SoundConnect Appoints Director of Channel Development & Sales 2La curcumina con la maggiore biodisponibilità di sempre farà il suo debutto in Europa 2La curcumina con la maggiore biodisponibilità di sempre farà il suo debutto in Europa 3
... ("Dyadic") (OTC Pink: DYAI), a global biotechnology company focused ... and protein products for the industrial enzyme, bioenergy, and ... FibreZyme® G5000, a next generation, high performance ... quality and improve the economics of various pulp and ...
... N.Y., March 13, 2012   Health Care Compliance ... Christi Health System of Wichita, Kansas has realized ... just two months after selecting and implementing COI-SMART, ... disclosure process. (Logo: http://photos.prnewswire.com/prnh/20061010/NYTU194LOGO ...
... 8, 2012 - Researchers in applied physics have cleared ... called metamaterials, that bend light in unusual ways. ... Harvard team has used extremely short and powerful laser ... within a material. Those suspended metal dots are essential ...
Cached Biology Technology:Dyadic International Launches FibreZyme® G5000 High Performance Powder Pulp and Paper Enzyme in Booth #1065 at Tissue World Americas Conference 2Dyadic International Launches FibreZyme® G5000 High Performance Powder Pulp and Paper Enzyme in Booth #1065 at Tissue World Americas Conference 3Conflict of Interest Management System Selected by Via Christi Health 2Conflict of Interest Management System Selected by Via Christi Health 3Metamaterials may advance with new femtosecond laser technique 2
The SmartSpec printer paper is used to record data generated by the SmartSpec Plus spectrophotometer. Supplied as 5 packs....
... arrays have been developed for affinity ... A variety of ProteinChip chemical surfaces ... to their unique biochemical properties. Each ... side-by-side sample comparison, and the chips ...
... Leu-CMK FLISP Assay with SR-101 Labeled ... nm) • Accurately measure serine protease ... permeabilization • B-Bridge's FLISP Kits utilize ... proteases (FLISPs) to measure chymotrypsin-like activity ...
... Spacer Leu-CMK FLISP Assay with FAM-Labeled ... nm) • Accurately measure serine protease ... permeabilization • B-Bridge's FLISP Kits utilize ... proteases (FLISPs) to measure chymotrypsin-like activity ...
Biology Products: