Royal College of Surgeons in Ireland
Browse

Germline mosaicism in a family with MBD5 haploinsufficiency

Download (1.9 MB)
journal contribution
posted on 2023-01-26, 16:39 authored by Mehak Bhatia, Gianpiero CavalleriGianpiero Cavalleri, Maire White, Norman DelantyNorman Delanty, Brian J Sweeney, Daniel J Costello, Marie GreallyMarie Greally, Katherine Benson

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.

Publication Date

17 November 2022

PubMed ID

36396431

Department/Unit

  • Beaumont Hospital
  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences
  • Undergraduate Research
  • School of Medicine

Publisher

Cold Spring Harbor Laboratory Press

Version

  • Published Version (Version of Record)