Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind

Umair Sajid; Bob Argiropoulos; Xing-Chang Wei; Jillian S Parboosingh; Ryan E Lamont; Aneal Khan; Steven C Greenway

doi:10.1016/j.cjca.2016.08.019

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind

Can J Cardiol. 2017 Feb;33(2):292.e5-292.e7. doi: 10.1016/j.cjca.2016.08.019. Epub 2016 Sep 26.

Authors

Umair Sajid¹, Bob Argiropoulos², Xing-Chang Wei³, Jillian S Parboosingh⁴, Ryan E Lamont⁴, Aneal Khan⁵, Steven C Greenway⁶

Affiliations

¹ Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
² Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
³ Department of Radiology, University of Calgary, Calgary, Alberta, Canada.
⁴ Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada; Molecular Diagnostic Laboratory, Genetic Laboratory Services-South, Alberta Health Services, Calgary, Alberta, Canada.
⁵ Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
⁶ Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada. Electronic address: [email protected].

PMID: 27965028
DOI: 10.1016/j.cjca.2016.08.019

Abstract

We report the finding of 2 de novo mutations in an 8-year-old boy with developmental delay and autism who underwent heart transplantation at 1 year of age for idiopathic dilated cardiomyopathy. We identified a de novo microdeletion at chromosome 2p16.3 involving the neurexin-1 (NRXN1) gene and a de novo pathologic variant (Pro838Leu) in the myosin heavy chain 7 (MYH7) gene. This case emphasizes the importance of comprehensive genetic evaluation in patients with cardiomyopathy, particularly if they have extracardiac abnormalities, and the necessity of interpreting variants with attention to the phenotype. A complete genetic diagnosis may require multiple testing modalities.

Publication types

Case Reports

MeSH terms

Autistic Disorder / complications*
Autistic Disorder / genetics
Calcium-Binding Proteins
Cardiac Myosins / genetics*
Cardiac Myosins / metabolism
Cardiomyopathy, Dilated / complications
Cardiomyopathy, Dilated / genetics*
Cardiomyopathy, Dilated / surgery
Cell Adhesion Molecules, Neuronal / genetics*
Cell Adhesion Molecules, Neuronal / metabolism
Child
DNA / genetics*
DNA Mutational Analysis
Heart Transplantation*
Humans
Male
Mutation*
Myosin Heavy Chains / genetics*
Myosin Heavy Chains / metabolism
Nerve Tissue Proteins / genetics*
Nerve Tissue Proteins / metabolism
Neural Cell Adhesion Molecules
Pedigree
Phenotype

Substances

Calcium-Binding Proteins
Cell Adhesion Molecules, Neuronal
MYH7 protein, human
NRXN1 protein, human
Nerve Tissue Proteins
Neural Cell Adhesion Molecules
DNA
Cardiac Myosins
Myosin Heavy Chains

Supplementary concepts

Idiopathic dilation cardiomyopathy