Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although MBD5 haploinsufficiency may also cause this genetic disorder. We report a family harboring a heterozygous loss-of-function variant in MBD5 (NM_018328.5:c.728delC; p.Pro243Hisfs*26), which includes three affected siblings with varying phenotypic features. Both parents were phenotypically normal but deep coverage sequencing of the parents showed germline mosaicism in the mother.
Funding
Science Foundation Ireland (SFI) under Grant Number 16/RC/3948
Mullegama SV
History
Comments
The original article is available at http://molecularcasestudies.cshlp.org/
Published Citation
Bhatia M. et al. Germline mosaicism in a family with MBD5 haploinsufficiency. Cold Spring Harb Mol Case Stud. 2022;8(7):a006253.