What is DDX3X gene?
What is DDX3X gene?
DDX3X (DEAD-Box Helicase 3 X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type and Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence.
What causes DDX3X?
DDX3X syndrome occurs when one of the two copies of the DDX3X gene has lost its normal function. This is caused by a spelling mistake in the gene. Genes are instructions, which have important roles in our growth and development.
How does RNA helicase work?
RNA helicases are highly conserved enzymes that use ATP to bind or remodel RNA or ribonucleoprotein complexes (RNPs) 1. One of the largest protein classes in RNA metabolism, RNA helicases are found in all kingdoms of life 2. In eukaryotes these enzymes participate in nearly all aspects of RNA metabolism 1.
How many people have DDX3X?
Fewer than 500 people worldwide are known to have DDX3X syndrome, according to the DDX3X Foundation, a nonprofit dedicated to the condition. Many more may be as yet unidentified, particularly because the gene’s link to intellectual disability was discovered only about five years ago, Silver says.
Which developmental disorder is the result of unexplained genetic causes?
DDX3X syndrome, as the condition is now known, was first described in a 2015 study in which scientists sequenced the genomes of thousands of participants and identified an X-chromosome gene called DDX3X that was frequently mutated in young girls diagnosed with unexplained developmental delay or intellectual disability.
What is replication fork?
The replication fork is a structure that forms within the long helical DNA during DNA replication. It is created by helicases, which break the hydrogen bonds holding the two DNA strands together in the helix. The resulting structure has two branching “prongs”, each one made up of a single strand of DNA.
Is DDX3X autism?
DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD).
Are most disabilities genetic?
As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease.
When was DDX3X discovered?
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within a DDX3X gene at conception or can be inherited. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well.
What chromosome is responsible for autism?
An extra copy of a stretch of genes on chromosome 22 may contribute to autism, according to the first study to carefully characterize a large group of individuals who carry this duplication1. The doubling can also lead to medical complications, such as vision or heart problems. The region, called 22q11.
