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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2019

Open Access 01-12-2019 | Disorders of Intellectual Development | Case report

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

Authors: Haixia Zhang, Bingwu Xiang, Hui Chen, Xiang Chen, Tao Cai

Published in: BMC Medical Genetics | Issue 1/2019

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Abstract

Background

The KMT2A gene encoded lysine methyltransferase plays an essential role in regulating gene expression during early development and hematopoiesis. To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner syndrome (WDSTS) and intellectual disability (ID)/developmental delay (DD).

Case presentation

In this report, we present a de novo heterozygous deletion mutation [c.74delG; p. (Gly26Alafs*2)] in the KMT2A gene, which was identified by trio-based whole exome sequencing from a 5.5-year-old boy with ID/DD, stereotypic hand movements and blood eosinophilia. Many deleterious germline mutations of KMT2A have been documented to affect development of central nervous system, oral and craniofacial tissues, but not blood eosinophils.

Conclusions

This is the first report of a rare case with ID/DD as well as eosinophilia, resulting from a previously undescribed null mutation of KMT2A. Our findings expand the phenotypical spectrum in affected individuals with KMT2A mutations, and may shed some insight into the role of KMT2A in eosinophil metabolism.
Appendix
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Metadata
Title
A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia
Authors
Haixia Zhang
Bingwu Xiang
Hui Chen
Xiang Chen
Tao Cai
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-019-0776-0

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