title: Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.
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.
authors.affiliation: Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Umair
authors.initials: U
authors.lastname: Sajid
authors.affiliation: Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Bob
authors.initials: B
authors.lastname: Argiropoulos
authors.affiliation: Department of Radiology, University of Calgary, Calgary, Alberta, Canada.
authors.forename: Xing-Chang
authors.initials: XC
authors.lastname: Wei
authors.affiliation: 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.
authors.forename: Jillian S
authors.initials: JS
authors.lastname: Parboosingh
authors.affiliation: 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.
authors.forename: Ryan E
authors.initials: RE
authors.lastname: Lamont
authors.affiliation: 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.
authors.forename: Aneal
authors.initials: A
authors.lastname: Khan
authors.affiliation: 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: scgreenw@ucalgary.ca.
authors.forename: Steven C
authors.initials: SC
authors.lastname: Greenway
mesh_terms: D001321:Autistic Disorder / Q000150:complications* / Q000235:genetics; D002135:Calcium-Binding Proteins; D024722:Cardiac Myosins / Q000235:genetics* / Q000378:metabolism; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics* / Q000601:surgery; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics* / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D019006:Neural Cell Adhesion Molecules; D010375:Pedigree; D010641:Phenotype
chemical_list: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C501641:MYH7 protein, human; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; D004247:DNA; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains