Open AccessInherited 2q23.1 microdeletions involving the MBD 5 locus
Author(s) -
Tadros Shereen,
Wang Rubin,
Waters Jonathan J.,
Waterman Christine,
Collins Amanda L.,
Collinson Morag N.,
Ahn Joo W.,
Josifova Dragana,
Chetan Ravi,
Kumar Ajith
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.316
Subject(s) - mand , genetics , locus (genetics) , phenotype , loss function , mosaic , biology , locus heterogeneity , medicine , genetic heterogeneity , psychiatry , autism , gene , history , archaeology
Background Microdeletions of 2q23.1 disrupting MBD 5 and loss of function mutations of MBD 5 cause MBD 5‐ Associated Neurodevelopmental disorders ( MAND ). Nearly all reported patients have been isolated cases of de novo origin. Methods This study investigates three families with inherited MBD 5 mutations from three different Regional Genetics Centres in the UK . Results Two of the parents in the study had MBD 5 deletions in a mosaic form. The parent with an MBD 5 deletion in an apparently nonmosaic form has a psychiatric disorder in the absence of developmental delay or dysmorphism. Conclusions Inherited forms of MBD 5 deletions are rare, but do occur, especially in a mosaic form. The phenotypic spectrum of MAND may be wider than previously thought.