Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Mutation Linked to Congenital Urinary Tract Defects

Published: Thursday, July 18, 2013
Last Updated: Thursday, July 18, 2013
Bookmark and Share
Findings point to new diagnostic category.

Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most common cause of kidney failure in children. It is the first time that a specific genetic mutation has been linked to a non-syndromic form of urinary tract malformation. The findings were published in the July 17 online issue of the New England Journal of Medicine.

The research team, led by Ali Gharavi, MD, associate professor of medicine in the Division of Nephrology and a nephrologist at NewYork-Presbyterian Hospital/Columbia University Medical Center, studied a Sardinian family with congenital malformations of the kidney and urinary tract. Several family members had experienced kidney failure at a young age. Using the recently developed tool of exome gene sequencing (sequencing of only the coding parts of the genome), the researchers identified a mutation in a gene called dual serine/threonine and tyrosine protein kinase (DSTYK) in all of the affected family members.

The researchers then screened 311 unrelated individuals with urinary tract defects from centers throughout Europe and found seven other patients with DSTYK mutations. “These findings indicate that DSTYK mutations account for 2.2 percent of urinary tract defects in humans, which is very significant as a single-gene cause of this disease,” says Dr. Simone Sanna-Cherchi, the first author of the study.

Some cases of congenital urinary tract defects present with kidney failure at birth, while others are not evident until complications arise, sometimes not until years later.  By defining a new form of disease, these findings will allow clinicians to make a precise molecular diagnosis and identify mutation carriers who may be at risk for complications.

“Exome gene sequencing is now the method of choice for diagnosis of congenital disorders of unknown cause,” says Dr. Gharavi.  “It is what enabled us to detect the mutation that was shared by all affected individuals in the Sardinian family.”

Drs. Sanna-Cherchi, Gharavi, and colleagues now plan to use the exome genome sequencing approach to study other patients and define additional forms of congenital urinary tract defects. “By defining new disease categories, we can study each genetic subtype in detail and determine why there is so much variability in the clinical course and complications of these disorders. We will be better able to advise patients on the risk of complications in family members and future offspring,” says Dr. Sanna-Cherchi.

The paper, titled “Mutations in DSTYK and Dominant Urinary Tract Malformations,” is the result of an international collaboration of Columbia University Medical Center and 32 other institutions, including the Giannina Gaslini Institute, Genoa, Italy; the Hospital of Montichiari, Montichiari, Italy; the University of Parma, Parma, Italy; the University of Foggia, Foggia, Italy; the University of Split, Split, Croatia; Yale University School of Medicine, New Haven, Conn.; and Harvard Medical School, Boston, Mass.

This research was supported by the American Heart Association Scientist Development Grant 0930151N, the American Heart Association Grant in Aid 13GRNT14680075, the American Society of Nephrology Carl W. Gottschalk Research Scholar Grant, NIDDK grant K23-DK090207, the Fondazione Malattie Renali nel Bambino (Italy), the American Society of Nephrology, the Doris Duke Charitable Foundation, and the Polish Ministry of Health.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,300+ scientific posters on ePosters
  • More than 4,800+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Trial Aims to Advance Prenatal Diagnosis of Genetic Defects
High-risk pregnant women being recruited for research on chromosomal abnormalities and incidence of birth defects, developmental delays.
Thursday, August 22, 2013
Ultrasound Eases Arthritis Diagnosis
For patients with painful joints, getting a proper diagnosis can be an arduous and confusing process. Just waiting for a referral to a specialist can take weeks.
Monday, April 08, 2013
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Review of the Analysis of Haemoglobin A1c for Diabetes Diagnostics
This paper aims to clarify methods, units, quality requirements, reference and cutoff limits for hemoglobin A1c (HbA1c) and ratio of blood glucose/HbA1c on the basis of the results from Finnish quality control surveys by comparing them to the literature.
Colon Cancer Blocked in Mice
Case Western Reserve University Researchers block common type of colon cancer tumour in mice, laying groundwork for human clinical trial.
Drug - Gene 'One-Two' Punch Against Cancer
Researchers identify gene-drug combinations that, together, target and kill cancer cells while not targeting healthy cells.
Liquid Biopsies Treating Ovarian Cancer
Researchers have discovered a promising monitor and treat recurrence of ovarian cancer. Detecting cancer long before tumours reappear.
72% Rise in Metastatic Prostate Cancer
Over the 2003-2013 period metastatic cancer has increased by an average of 72%, this could be caused by lax screening, more aggressive disease or both.
Lab-Tested Diagnosis Needed When Treating Persistent Diarrhea
New PCR multiplex method makes lab testing more effective.
Biomarker for Multiple Sclerosis Detection Discovered
Winthrop-University Hospital researchers discover biomarker for multiple sclerosis detection.
Scientists Link Bipolar Disorder to Unexpected Brain Region
Researchers from The Scripps Research Institute have found that gene within the brain’s striatum could be linked to biopolar disorder.
Liquid Biopsies: DNA Size Matters
Study finds circulating tumour DNA can be distinguished from healthy DNA through fragment size identification.
SELECTBIO

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!