Nav: Home

KAT6A syndrome: Advances on the genetic bases and clinical picture of a rare disease

February 26, 2020

A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye defects, among other affectations.

The study, published in the journal Orphanet Journal of Rare Diseases, is led by a team co-led by the researchers Daniel Grinberg and Susanna Balcells and Roser Urreizti, from the Human Molecular Genetics Group of the Faculty of Biology of the University of Barcelona and the Rare Diseases Networking Biomedical Research Centre (CIBERER), and the experts Estrella López-Martín and Eva Bermejo-Sánchez, from the Institute of Rare Diseases Research (IIER) from Carlos III Health Institute (ISCIII).

KAT6A syndrome: news symptoms related to a rare disease

The research team confirmed in five new patients some of the features of the clinical picture related to the pathology, apart from describing new symptoms and affectations in the development of the disease. In particular, the authors overserved new symptoms such as cryptorchidism (testicular atrophy), syndactyly (fused fingers) and trigonocephaly (deformation in the frontal part of the cranium), apart from the emergence of recurrent infections.

The experts from the Human Molecular Genetics Group of the UB, also members of the Institute of Biomedicine of the University of Barcelona (IBUB) and the Research Institute Sant Joan de Déu (IRSJD), contributed to specifying the role of genetic mutations that were seen in this minority disease. Despite the syndrome was first related to truncating mutations, the new study describes a variant of the disease without cardiac affectations that is related to missense mutations.

Four out of the five patients described in this study showed missense substitutions, and the fifth case they observed a missense mutation that did not follow cardiac affectations.

The in silico studies -with informatic simulations- confirmed that the missense mutation generated a partial process of splicing that caused the premature truncating of the protein that gave origin to the pathology.

The new study will contribute to better understand the natural history of this syndrome and expand the clinical phenotype of patients, advances that are essential to delimit the phenotypical characterization and definition of this rare disease. According to the authors, these findings will help to increase the chances to diagnose other affected patients earlier. Other participants in the study are experts from the Hospital del Mar Medical Research Institute (IMIM), Hospital de la Fe (Valencia) and the University of Adelaide (Australia).
-end-


University of Barcelona

Related Disease Articles:

Viewpoint: Could disease pathogens be the dark matter behind Alzheimer's disease?
In a lively discussion appearing in the Viewpoint section of the journal Nature Reviews Neurology, Ben Readhead, a researcher in the ASU-Banner Neurodegenerative Disease Research Center at the Biodesign Institute joins several distinguished colleagues to discuss the idea that bacteria, viruses or other infectious pathogens may play a role in Alzheimer's disease.
Tools used to study human disease reveal coral disease risk factors
In a study published in Scientific Reports, a team of international researchers led by University of Hawai'i (UH) at Mānoa postdoctoral fellow Jamie Caldwell used a statistical technique typically employed in human epidemiology to determine the ecological risk factors affecting the prevalence of two coral diseases--growth anomalies, abnormalities like coral tumors, and white syndromes, infectious diseases similar to flesh eating bacteria.
Disease-aggravating mutation found in a mouse model of neonatal mitochondrial disease
The new mitochondrial DNA (mtDNA) variant drastically speeds up the disease progression in a mouse model of GRACILE syndrome.
Human longevity largest study of its kind shows early detection of disease & disease risks
Human Longevity, Inc. (HLI) announced the publication of a ground-breaking study in the journal Proceedings of the National Academy of Sciences (PNAS).
30-year study identifies need of disease-modifying therapies for maple syrup urine disease
A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders.
Long-dormant disease becomes most dominant foliar disease in New York onion crops
Until recently, Stemphylium leaf blight has been considered a minor foliar disease as it has not done much damage in New York since the early 1990s.
Inflammatory bowel disease appears to impact risk of Parkinson's disease
Amsterdam, NL, November 14, 2019 - Relatively new research findings indicating that the earliest stages of Parkinson's disease (PD) may occur in the gut have been gaining traction in recent years.
Contact sports associated with Lewy body disease, Parkinson's disease symptoms, dementia
There is mounting evidence that repetitive head impacts from contact sports and other exposures are associated with the neurodegenerative disease chronic traumatic encephalopathy (CTE) and dementia.
In kidney disease patients, illicit drug use linked with disease progression and death
Among individuals with chronic kidney disease, hard illicit drug use was associated with higher risks of kidney disease progression and early death.
Despite reductions in infectious disease mortality in US, diarrheal disease deaths on the rise
Deaths from infectious diseases have declined overall in the United States over the past three decades.
More Disease News and Disease Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Listen Again: Reinvention
Change is hard, but it's also an opportunity to discover and reimagine what you thought you knew. From our economy, to music, to even ourselves–this hour TED speakers explore the power of reinvention. Guests include OK Go lead singer Damian Kulash Jr., former college gymnastics coach Valorie Kondos Field, Stockton Mayor Michael Tubbs, and entrepreneur Nick Hanauer.
Now Playing: Science for the People

#562 Superbug to Bedside
By now we're all good and scared about antibiotic resistance, one of the many things coming to get us all. But there's good news, sort of. News antibiotics are coming out! How do they get tested? What does that kind of a trial look like and how does it happen? Host Bethany Brookeshire talks with Matt McCarthy, author of "Superbugs: The Race to Stop an Epidemic", about the ins and outs of testing a new antibiotic in the hospital.
Now Playing: Radiolab

Dispatch 6: Strange Times
Covid has disrupted the most basic routines of our days and nights. But in the middle of a conversation about how to fight the virus, we find a place impervious to the stalled plans and frenetic demands of the outside world. It's a very different kind of front line, where urgent work means moving slow, and time is marked out in tiny pre-planned steps. Then, on a walk through the woods, we consider how the tempo of our lives affects our minds and discover how the beats of biology shape our bodies. This episode was produced with help from Molly Webster and Tracie Hunte. Support Radiolab today at Radiolab.org/donate.