Dataset Information


Inherited 2q23.1 microdeletions involving the MBD5 locus.

ABSTRACT: BACKGROUND:Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS:This study investigates three families with inherited MBD5 mutations from three different Regional Genetics Centres in the UK. RESULTS:Two of the parents in the study had MBD5 deletions in a mosaic form. The parent with an MBD5 deletion in an apparently nonmosaic form has a psychiatric disorder in the absence of developmental delay or dysmorphism. CONCLUSIONS:Inherited forms of MBD5 deletions are rare, but do occur, especially in a mosaic form. The phenotypic spectrum of MAND may be wider than previously thought.

PROVIDER: S-EPMC5606852 | BioStudies |

REPOSITORIES: biostudies

Similar Datasets

| S-EPMC4243375 | BioStudies
| S-EPMC4989212 | BioStudies
| S-EPMC3865402 | BioStudies
| S-EPMC4154129 | BioStudies
| S-EPMC6687664 | BioStudies
| S-EPMC3188839 | BioStudies
2014-01-01 | S-EPMC4755234 | BioStudies
| S-EPMC3831065 | BioStudies
| S-EPMC8163803 | BioStudies
| S-EPMC2987180 | BioStudies