MBD5

Below is a summary for the MBD5 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is MBD5-associated neurodevelopmental disorder?

MBD5-associated neurodevelopmental disorder is a group of conditions that happen when there are changes to the MBD5 gene. These changes can keep the gene from working as it should. The disorder is also known as MAND.

MAND can happen when there are changes to the MBD5 gene. The disorder can also happen when larger segment of DNA are deleted or duplicated. Then it is known as 2q23.1 deletion syndrome or 2q23.1 duplication syndrome.

Key Role

The MBD5 gene plays a key role in the development and function of the brain. It is also important for other organs, including the heart and intestines.

Symptoms

Because the MBD5 gene is important in the brain, many people who have MAND have:

Intellectual disability
Motor delay
Speech impairments
Seizures
Autism spectrum disorder
Behavior issues, including sleep issues, repetitive behaviors, and short attention span

Do people who have MAND syndrome look different?

Most people who have MAND don’t look very different. Appearance can vary and can include some but not all of these features:

Broad forehead
Thick or highly arched eyebrows
Changes to the outer ear, such as a forward-facing structure
Large earlobes, ears that stick out, or ears that are cupped
Short nose, depressed or wide nasal bridge
Downturned corners of the mouth and thin upper lip

FEEDING AND DIGESTION

90% of individuals have problems with feeding and constipation.

BRAIN

About 80% of children with MAND have seizures.

SITTING AND WALKING

About 70% of people have poor coordination and broad-based or uncoordinated walking.

Support Resources

Simons Searchlight Community – MBD5 Facebook group
Geisinger Developmental Brain Disorder Gene Database – MBD5

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for MBD5.

Research Article Summaries

Below, we have summarized research articles about changes in the MBD5 gene. We hope you find this information helpful.

The information available about MBD5 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for MBD5 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Original research article by S. Girirajan et al. (2013).

Read the abstract here and the Simons Searchlight summary here.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Original research article by T. Kleefstra et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Original research article by G.L. Carvill et al. (2013).

Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MBD5 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

Stories from MBD5 families:

Isla

Click here to share your family’s story!