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

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• 作者：Umair Sajid ; BHSc^a ; ^b ; Bob Argiropoulos ; PhD ; FCCMG^b ; ^c ; Xing-Chang Wei ; MB ; MSc ; FRCPC^d ; Jillian S. Parboosingh ; PhD ; FCCMG^b ; ^c ; ^e ; Ryan E. Lamont ; PhD ; FCCMG^b ; ^c ; ^e ; Aneal Khan ; MSc ; MD ; FRCPC ; FCCMG^a ; ^b ; ^c ; Steven C. Greenway ; MSc ; MD ; FRCPC^a ; ^b ; ^f ; ^{scgreenw@ucalgary.ca}
• 刊名：Canadian Journal of Cardiology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：33
• 期：2
• 页码：292.e5-292.e7
• 全文大小：884 K
• 卷排序：33

文摘

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.