Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Gene Mutations Responsible For Rett Syndrome In Females Present Sporadically in Males

Gene mutations that are responsible for the majority (seventy to eighty percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder. A study published in the journal Neurology reports four sporadic occurrences of MECP2 gene mutations in infant males with progressive encephalopathy. RTT is an X-linked neurodevelopmental disorder that is caused by mutations in the MECP2 gene and is characterized by stagnation of development followed by regression.
In an international collaboration, researchers from the United States and Australia identified and evaluated four non-familial, sporadic occurrences of MECP2 gene mutations. Prior to this study, the majority of reported males with MECP2 mutations had a family history of RTT. Based on the results of this study, MECP2 abnormalities should be evaluated in young infant males who develop progressive encephalopathy including respiratory insufficiency, microcephaly, abnormal muscle tone and various movement disorders, as mutations to the gene may be the source of the infant’s neurological problems.

“Boys born to families with a history of Rett syndrome are examined very closely for MECP2 mutations, but beyond these families, physicians usually do not test for mutations to the gene,” said Walter E. Kaufmann, M.D., study author and research scientist at the Kennedy Krieger Institute in Baltimore. “Infant males with progressive encephalopathy may go undiagnosed because the prevailing assumption is that males with these mutations die before they are born. We’ve found that this is not the case, and encourage neonatologists and pediatricians to consider MECP2 as a possible cause of severe neurological abnormalities.”

All four newly identified cases exhibited common features, including: moderate or severe early postnatal progressive encephalopathy; unexplained central hypoventilation or respiratory insufficiency; abnormal movements; intractable seizures and abnormal tone. Three of the four cases had definitely pathogenic mutations and the fourth was potentially pathogenic. Acute observations and knowledge of the clinical picture of RTT prompted suspicion of MECP2 mutations in the four newly reported cases.

“While the findings of this study represent an important step forward in learning more about MECP2 mutations in infant males, many questions still remain regarding the role of the gene and its contribution to the encephalopathy of Rett syndrome,” said Dr. Gary Goldstein, President and CEO of the Kennedy Krieger Institute. “To help answer these and other questions regarding RTT, Kennedy Krieger has played a leading role in organizing an international consortium of scientists from every major Rett center around the world to conduct clinical studies on the diagnosis and treatment of the disorder.”

The consortium, called ‘RettSearch,’ will provide a forum for scientists to combine research efforts and share results from around the world. With only 15 cases of MECP2 mutations in infant males currently identified worldwide, researchers’ observations are limited. Through the ‘RettSearch’ network, which is being coordinated by Dr. Kaufmann, scientists from Kennedy Krieger and other member institutions hope to identify additional cases and conduct multi-center trials with both males and females with MECP2 mutations and RTT.

About Rett Syndrome

Rett Syndrome (RTT) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay caused by a defective regulatory MECP2 gene found on the X chromosome. The disorder is seen almost exclusively in females. Unlike females, who have two X-chromosomes, males have an X and a Y chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a defective one, mutations in MECP2 are often lethal to the male fetus. This is why RTT is found overwhelmingly in females. RTT occurs in a variety of racial and ethnic groups worldwide and is now known to occur in 1:10,000 to 1:23,000 female births, but incidence may be far greater as new genetic evidence is discovered.

Development appears normal until 6-18 months of age, followed by loss of acquired speech and hand skills, slowing of head growth and development of stereotyped repetitive hand movements such as hand washing, hand wringing, hand tapping, hand clapping and hand mouthing. Stereotyped hand movements may change over time and additional problems may include seizures, breathing irregularities (hyperventilation and apnea), teeth grinding and curvature of the spine (scoliosis).

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 12,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis.

Emily Butler | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Don't Give the Slightest Chance to Toxic Elements in Medicinal Products
23.03.2018 | Physikalisch-Technische Bundesanstalt (PTB)

nachricht North and South Cooperation to Combat Tuberculosis
22.03.2018 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Space observation with radar to secure Germany's space infrastructure

Satellites in near-Earth orbit are at risk due to the steady increase in space debris. But their mission in the areas of telecommunications, navigation or weather forecasts is essential for society. Fraunhofer FHR therefore develops radar-based systems which allow the detection, tracking and cataloging of even the smallest particles of debris. Satellite operators who have access to our data are in a better position to plan evasive maneuvers and prevent destructive collisions. From April, 25-29 2018, Fraunhofer FHR and its partners will exhibit the complementary radar systems TIRA and GESTRA as well as the latest radar techniques for space observation across three stands at the ILA Berlin.

The "traffic situation" in space is very tense: the Earth is currently being orbited not only by countless satellites but also by a large volume of space...

Im Focus: Researchers Discover New Anti-Cancer Protein

An international team of researchers has discovered a new anti-cancer protein. The protein, called LHPP, prevents the uncontrolled proliferation of cancer cells in the liver. The researchers led by Prof. Michael N. Hall from the Biozentrum, University of Basel, report in “Nature” that LHPP can also serve as a biomarker for the diagnosis and prognosis of liver cancer.

The incidence of liver cancer, also known as hepatocellular carcinoma, is steadily increasing. In the last twenty years, the number of cases has almost doubled...

Im Focus: Researchers at Fraunhofer monitor re-entry of Chinese space station Tiangong-1

In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.

Following the loss of radio contact with Tiangong-1 in 2016 and due to the low orbital height, it is now inevitable that the Chinese space station will...

Im Focus: Alliance „OLED Licht Forum“ – Key partner for OLED lighting solutions

Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.

They are united in their passion for OLED (organic light emitting diodes) lighting with all of its unique facets and application possibilities. Thus experts in...

Im Focus: Mars' oceans formed early, possibly aided by massive volcanic eruptions

Oceans formed before Tharsis and evolved together, shaping climate history of Mars

A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

New solar solutions for sustainable buildings and cities

23.03.2018 | Event News

Virtual reality conference comes to Reutlingen

19.03.2018 | Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

Latest News

For graphite pellets, just add elbow grease

23.03.2018 | Materials Sciences

Unique communication strategy discovered in stem cell pathway controlling plant growth

23.03.2018 | Agricultural and Forestry Science

Sharpening the X-ray view of the nanocosm

23.03.2018 | Physics and Astronomy

Science & Research
Overview of more VideoLinks >>>