Community hub
Recent from talks
Contribute something to knowledge base
Content stats: 0 posts, 0 articles, 1 media, 0 notes
Members stats: 0 subscribers, 0 contributors, 0 moderators, 0 supporters
Subscribers
Supporters
Contributors
Moderators
Hub AI
Roberts syndrome AI simulator
(@Roberts syndrome_simulator)
Hub AI
Roberts syndrome AI simulator
(@Roberts syndrome_simulator)
Roberts syndrome
Roberts syndrome, sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die.
Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals. The syndrome is named after American surgeon and physician John Bingham Roberts (1852–1924), who first described it in 1919.
The following is a list of symptoms that have been associated with Roberts syndrome:[citation needed]
Mortality is high among those severely affected by Roberts syndrome; however, mildly affected individuals may survive to adulthood
ESCO2, located on human chromosome 8, has been labeled as the gene responsible for Roberts syndrome. In fact, ESCO2 is the only known gene that has demonstrated RBS-causing mutations. Also, all individuals that have been cytogenetically diagnosed with Roberts syndrome have also had mutations in the ESCO2 gene.
In order to contract Roberts syndrome, a child must inherit the defective gene in an autosomal recessive manner. In other words, the child must inherit two copies of the defective gene (one from each parent). The ESCO2 gene has a specific effect on cell division in Roberts syndrome patients. In normal cell division, each chromosome is copied and then attached to its newly formed copy at the centromere (the center portion of a chromosome). However, in Roberts syndrome cell division, the copies are frequently not attached at the centromere. As a result, the chromosomes do not get lined up properly, which causes the cell to divide very slowly or even to not divide at all. The new cells typically will have too many or too few chromosomes. The odd number of chromosomes causes the defective cells to die, which leads to the malformations associated with Roberts syndrome.
Many of the physical malformations associated with Roberts syndrome are very similar to the malformations that occur in children whose mothers took thalidomide during pregnancy. The physical similarities suggest that there is a similar underlying biology between ESCO2 and thalidomide. As a result, it is speculated that thalidomide affects chromosomes and cell division in a similar manner to ESCO2. For this reason, Roberts syndrome is sometimes called Pseudothalidomide Syndrome.[citation needed]
Roberts syndrome
Roberts syndrome, sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die.
Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals. The syndrome is named after American surgeon and physician John Bingham Roberts (1852–1924), who first described it in 1919.
The following is a list of symptoms that have been associated with Roberts syndrome:[citation needed]
Mortality is high among those severely affected by Roberts syndrome; however, mildly affected individuals may survive to adulthood
ESCO2, located on human chromosome 8, has been labeled as the gene responsible for Roberts syndrome. In fact, ESCO2 is the only known gene that has demonstrated RBS-causing mutations. Also, all individuals that have been cytogenetically diagnosed with Roberts syndrome have also had mutations in the ESCO2 gene.
In order to contract Roberts syndrome, a child must inherit the defective gene in an autosomal recessive manner. In other words, the child must inherit two copies of the defective gene (one from each parent). The ESCO2 gene has a specific effect on cell division in Roberts syndrome patients. In normal cell division, each chromosome is copied and then attached to its newly formed copy at the centromere (the center portion of a chromosome). However, in Roberts syndrome cell division, the copies are frequently not attached at the centromere. As a result, the chromosomes do not get lined up properly, which causes the cell to divide very slowly or even to not divide at all. The new cells typically will have too many or too few chromosomes. The odd number of chromosomes causes the defective cells to die, which leads to the malformations associated with Roberts syndrome.
Many of the physical malformations associated with Roberts syndrome are very similar to the malformations that occur in children whose mothers took thalidomide during pregnancy. The physical similarities suggest that there is a similar underlying biology between ESCO2 and thalidomide. As a result, it is speculated that thalidomide affects chromosomes and cell division in a similar manner to ESCO2. For this reason, Roberts syndrome is sometimes called Pseudothalidomide Syndrome.[citation needed]
Recent media
Recent media