Gene associated with a rare condition that leads to physical and intellectual disabilities in children has been identified. The findings of the study are published in the American Journal of Human Genetics
Modern science and data sharing converged to underpin a study led by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, that identified a gene associated with a rare condition that results in physical and intellectual disabilities of children.
Birth Defect - Genetic
Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism
Advertisement
‘Rare variants in the gene DDX6 are linked to a significant disruption in the development of the central nervous system, governing such basic skills as the ability to walk and talk.’
Read More..
Tweet it Now
Read More..
The results suggest that rare variants in the gene DDX6 are associated with a significant disruption in the development of the central nervous system, governing such basic skills as the ability to walk and talk.
"One of the most powerful revelations of this study is the identification of pathogenic mutations in DDX6; a gene not previously linked to childhood disorders and one which appears to play a key role in early brain development," said Chris Balak, a research associate in TGen's Neurogenomics Division, and the study's lead author.
![Birth Defect - Structural Defects]( "Birth Defect - Structural Defects")
A structural birth defect means that a specific body part is missing or mal-formed during the embryonic development.
Balak zeroed in on DDX6 by comparing the sequencing results from a 5-year-old Arizona girl who was seen at TGen's Center for Rare Childhood Disorders (the Center) with those identified in large population databases and to the genomes of her parents, who are healthy. Following this revelation, and preliminary findings posted on a website shared by investigators worldwide, TGen identified four similar cases: two in the U.S., and one each in France and the Netherlands.
These children's conditions were characterized by intellectual disability, developmental delay, speech and feeding difficulties, low muscle strength with difficulties walking, mild-to-moderate cardiac anomalies, and specific facial features.
"Something we are quite proud of with this work is our combined effort with other physicians and scientists in Europe to demonstrate that changes in this gene cause this rare syndrome in multiple patients," said Dr. Matt Huentelman, TGen Professor of Neruogenomics, Scientific Director of the Center, and one of the study's senior authors. "Collectively, our clinical and laboratory data describe a new brain development syndrome caused by genetic changes in DDX6."
Since opening in 2012, the Center has sequenced the genomes of hundreds of children and their families.
"Through an international collaboration, by combining genomic methods with detailed molecular studies using cells and tissues from our patients, we were led to the discovery of a new neurodevelopmental syndrome caused by mutation of DDX6," said Dr. Vinodh Narayanan, Medical Director of the Center, and another of the study's senior authors.
"We expect that the insight into disease mechanisms gained from our studies will lead to a better understanding of an entire group of neurodevelopmental disorders, and eventually guide us to specific treatments."
Source: Eurekalert
Birth Defect - Structural Defects
A structural birth defect means that a specific body part is missing or mal-formed during the embryonic development.
Advertisement
Balak zeroed in on DDX6 by comparing the sequencing results from a 5-year-old Arizona girl who was seen at TGen's Center for Rare Childhood Disorders (the Center) with those identified in large population databases and to the genomes of her parents, who are healthy. Following this revelation, and preliminary findings posted on a website shared by investigators worldwide, TGen identified four similar cases: two in the U.S., and one each in France and the Netherlands.
These children's conditions were characterized by intellectual disability, developmental delay, speech and feeding difficulties, low muscle strength with difficulties walking, mild-to-moderate cardiac anomalies, and specific facial features.
"Something we are quite proud of with this work is our combined effort with other physicians and scientists in Europe to demonstrate that changes in this gene cause this rare syndrome in multiple patients," said Dr. Matt Huentelman, TGen Professor of Neruogenomics, Scientific Director of the Center, and one of the study's senior authors. "Collectively, our clinical and laboratory data describe a new brain development syndrome caused by genetic changes in DDX6."
Since opening in 2012, the Center has sequenced the genomes of hundreds of children and their families.
"Through an international collaboration, by combining genomic methods with detailed molecular studies using cells and tissues from our patients, we were led to the discovery of a new neurodevelopmental syndrome caused by mutation of DDX6," said Dr. Vinodh Narayanan, Medical Director of the Center, and another of the study's senior authors.
"We expect that the insight into disease mechanisms gained from our studies will lead to a better understanding of an entire group of neurodevelopmental disorders, and eventually guide us to specific treatments."
Source: Eurekalert
Multifactorial Birth Defects
Encyclopedia section of medindia gives in brief General Info about About Multifactorial Birth Defects.
Advertisement
 Environmental Birth DefectsBirth defects caused due to environmental teratogens like drugs, microorganisms or exposure to radiation are called as environmental birth defects. | Advertisement
|
Advertisement
Recommended Reading
Latest Child Health News
Sleep patterns of infants can be anticipated based on cortisol levels during the later stages of pregnancy, says a new study to be presented at the annual meeting of SLEEP 2023.
Analyzing the earliest sex differences in language-related activities, recent research showed boys produced significantly more speech-like vocalizations (protophones) than girls.
A mother found a team at Saint Louis University's Speech-Language and Hearing Clinic that empowered her daughter to communicate with increased confidence in different settings.
In 2022, the number of North Korean kids falling under the obese category stood at 47,500 compared with 25,100 in 2012.
In mice the maternal milk provides a key signal that instructs cardiomyocytes to activate lipid metabolism.