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.

SUBMITTER: Tadros S

PROVIDER: S-EPMC5606852 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Publications

Inherited 2q23.1 microdeletions involving the <i>MBD5</i> locus.

Tadros Shereen S Wang Rubin R Waters Jonathan J JJ Waterman Christine C Collins Amanda L AL Collinson Morag N MN Ahn Joo W JW Josifova Dragana D Chetan Ravi R Kumar Ajith A

Molecular genetics & genomic medicine 20170808 5

<h4>Background</h4>Microdeletions of 2q23.1 disrupting <i>MBD5</i> and loss of function mutations of <i>MBD5</i> cause <i>MBD5-</i>Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin.<h4>Methods</h4>This study investigates three families with inherited <i>MBD5</i> mutations from three different Regional Genetics Centres in the UK.<h4>Results</h4>Two of the parents in the study had <i>MBD5</i> deletions in a mosaic form. The pare ...[more]

PMID: 28944244

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