2q23.1 microdeletion syndrome

What causes 2q23.1 microdeletion syndrome?

2q23.1 microdeletion syndrome is caused by the loss of a small piece of one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our body. Losing this small piece of chromosome 2 means that people with this microdeletion are missing one copy of the gene called MBD5. Most genes, including MBD5 , act as a blueprint or code that tells a cell how to make a specific protein. When a gene __ is missing, the protein it codes for is also missing. Since only one copy of the MBD5 gene is missing, some MBD5 protein is made, but not enough.

Medical researchers believe the MBD5 protein is a transcription regulator, which means it helps tell the cell which other genes should have their proteins made. These other proteins are thought to be important for the normal development and function of the brain.

Last updated on 05-01-20

How is 2q23.1 microdeletion syndrome inherited?

The mutation associated with 2q23.1 microdeletion syndrome generally is not passed down from the parents, but instead occurs for the first time in the affected child ( de novo ). In many cases, therefore, there is no increased risk for other children of the couple to have 2q23.1 microdeletion syndrome.

However, in some cases, a child has inherited the microdeletion from a parent in an aautosomal dominant manner, but the parent does not have symptoms of 2q23.1 syndrome (unaffected) or is very mildly affected. This suggests the symptoms of 2q23.1 microdeletion syndrome may reduced penetrance. Therefore medical researchers recommend the chromosomes of both parents of child with 2q23.1 microdeletion syndrome are tested before talking to a genetic counselor about the risks of having another child with the microdeletion in future pregnancies.

Last updated on 05-01-20

Name: Chromosome Disorder Outreach CDO PO Box 724
Boca Raton, FL, 33429 , United States
Phone: +1-561-395-4252 Email: https://chromodisorder.org/contact/ Url: https://chromodisorder.org/
Name: Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West
Surrey RH8 9EE
United Kingdom
Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/
Name: 2q23.org Url: http://2q23.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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