X-Linked Intellectual Disability, Siderius Type Overview
Learn About X-Linked Intellectual Disability, Siderius Type
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.
X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. Chromatin is the network of DNA and protein that packages DNA into chromosomes. Binding with the PHF8 protein is part of the process that changes the structure of chromatin (chromatin remodeling) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.
While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature.
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Boise Radiology Group PLLC
Adam Maxfield is a Radiologist in Nampa, Idaho. Dr. Maxfield and is rated as an Advanced provider by MediFind in the treatment of X-Linked Intellectual Disability, Siderius Type. His top areas of expertise are Mohr-Tranebjaerg Syndrome, PEHO Syndrome, Aicardi-Goutieres Syndrome, and X-Linked Intellectual Disability, Siderius Type. Dr. Maxfield is currently accepting new patients.
Boise Radiology Group PLLC
Daniel Ririe is a Radiologist in Nampa, Idaho. Dr. Ririe has been practicing medicine for over 26 years and is rated as an Advanced provider by MediFind in the treatment of X-Linked Intellectual Disability, Siderius Type. His top areas of expertise are Mohr-Tranebjaerg Syndrome, PEHO Syndrome, X-Linked Intellectual Disability, Siderius Type, and Aicardi-Goutieres Syndrome.
Michael Djernes is a Neurologist in Nampa, Idaho. Dr. Djernes and is rated as an Experienced provider by MediFind in the treatment of X-Linked Intellectual Disability, Siderius Type. His top areas of expertise are Progressive Myoclonic Epilepsy, Memory Loss, Unverricht-Lundborg Syndrome, and Lafora Disease.
Published Date: June 01, 2015
Published By: National Institutes of Health