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.
Résumé
Nous rapportons la découverte de 2 mutations de novo chez un garçon de 8 ans souffrant
d’un retard de développement et d’autisme qui a subi une transplantation du cœur à
1 an en raison d’une cardiomyopathie dilatée idiopathique. Nous avons trouvé une microdélétion
de novo au chromosome 2p16.3 impliquant le gène codant pour la neurexine 1 (NRXN1)
et un variant pathogène de novo (Pro838Leu) dans le gène de la chaîne lourde de la
myosine 7 (MYH7). Ce cas souligne l’importance d’une évaluation génétique exhaustive
chez les patients ayant une cardiomyopathie, particulièrement s’ils ont des anomalies
extracardiaques, et la nécessité d’interpréter les variants en portant attention aux
phénotypes. Un diagnostic génétique complet peut exiger de multiples modalités de
tests.
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References
- Investigation of NRXN1 deletions: clinical and molecular characterization.Am J Med Genet A. 2013; 161A: 717-731
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.Am J Med Genet B. 2010; 153B: 937-947
- A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.Cell. 1990; 62: 999-1006
- A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.Congenit Heart Dis. 2008; 3: 138-143
- Dual genetic diagnoses: atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.Am J Med Genet A. 2015; 170A: 717-724
Article info
Publication history
Published online: September 26, 2016
Accepted:
August 29,
2016
Received:
July 9,
2015
Footnotes
See page 292.e7 for disclosure information.
Identification
Copyright
© 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
