Inherited 2q23.1 microdeletions involving the MBD5 locus
Shereen Tadros1, Rubin Wang1, Jonathan J Waters1
1North East Thames Regional Genetics ServiceGreat Ormond Street HospitalLondonWC1N 3JHUK.
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.
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