MBD5–related intellectual disability

Disease Overview

MBD5–related intellectual disability, or MBD5 haploinsufficiency, is a neurological and developmental disorder characterized by developmental delay, intellectual disability, speech problems, seizures, sleep troubles, and abnormal behaviors. Most children lack speech entirely or may only be able to use single words, short phrases, or short sentences. Seizures are present in about 80% and usually begin around age two years. Sleep troubles, present in about 80% of children, can cause daytime drowsiness. Abnormal behaviors can include autistic-like-behavior (80%) and self-injury and aggression (60%).[12467][12469] The disorder is caused by mutations or deletions (loss) of the MBD5 gene located on chromosome 2.[12468] People who have deletions of chromosome 2q23.1 which only include the MBD5 gene have similar symptoms and features to people with mutations of the MBD5 gene. People with larger deletions may also have ataxia, eating disorders, growth delay, and small hands and feet.[12467] These extra features in people with larger deletions are believed to be due to the loss of other genes located near the MBD5 gene on chromosome 2.[12467][12469] Inheritance is autosomal dominant. Treatment depends on the symptoms and features present in each person.[12469]

For a comprehensive review of  MBD5 Haploinsufficiency, you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Synonyms

• Autosomal dominant intellectual disability 1
• MBD5 Haploinsufficiency