Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

Sureni V Mullegama; Sarah H Elsea

doi:10.1038/ejhg.2016.35

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25.

Authors

Sureni V Mullegama¹, Sarah H Elsea²

Affiliations

¹ Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Abstract

MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion syndrome. Approaches to diagnosis, genetic counseling, and up-to-date management are summarized, followed by a discussion of the molecular and functional role of MBD5. Finally, we also include a brief summary of MBD5 variants that affect function of MBD5 and 2q23.1 duplication syndrome.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations
Chromosomes, Human, Pair 5 / genetics
DNA-Binding Proteins / genetics*
Humans
Neurodevelopmental Disorders / diagnosis
Neurodevelopmental Disorders / genetics*
Phenotype

Substances

DNA-Binding Proteins
MBD5 protein, human