Unknown

Dataset Information

0

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


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.

PROVIDER: S-EPMC4989212 | BioStudies |

REPOSITORIES: biostudies

Similar Datasets

| S-EPMC5606852 | BioStudies
| S-EPMC3865402 | BioStudies
| S-EPMC3831065 | BioStudies
| S-EPMC6687664 | BioStudies
| S-EPMC8163803 | BioStudies
| S-EPMC4243375 | BioStudies
| S-EPMC4795052 | BioStudies
| S-EPMC4154129 | BioStudies
| S-EPMC4425039 | BioStudies
| S-EPMC3188839 | BioStudies