Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes
| Autor: | Noga Arwas, Ruti Parvari, Yoram Etzion, Aviva Levitas, Liam Aspit, Hanna Krymko |
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| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Duchenne muscular dystrophy Cardiomyopathy 03 medical and health sciences Exon 0302 clinical medicine medicine Missense mutation cardiovascular diseases Genetics (clinical) Exome sequencing 030304 developmental biology 0303 health sciences biology business.industry Hypertrophic cardiomyopathy medicine.disease Phenotype Pediatrics Perinatology and Child Health cardiovascular system biology.protein Dystrophin business 030217 neurology & neurosurgery |
| Zdroj: | J Pediatr Genet |
| ISSN: | 2146-460X 2146-4596 |
| DOI: | 10.1055/s-0040-1718724 |
| Popis: | Duchenne muscular dystrophy (DMD) is a progressive muscular damage disorder caused by mutations in dystrophin gene. Cardiomyopathy may first be evident after 10 years of age and increases in incidence with age. We present a boy diagnosed at 18 months with a rare phenotype of DMD in association with early-onset hypertrophic cardiomyopathy (HCM). The cause of DMD is a deletion of exons 51–54 of dystrophin gene. The cause of HCM was verified by whole exome sequencing. Novel missense variations in two genes: MAP2K5 inherited from the mother and ACTN2 inherited from the father, or de novo. The combination of MAP2K5, ACTN2, and dystrophin mutations, could be causing the HCM in our patient. This is the second patient diagnosed, at relatively young age, with DMD and HCM, with novel variations in genes known to cause HCM. This study demonstrates the need for genetic diagnosis to elucidate the underlying pathology of HCM. |
| Databáze: | OpenAIRE |
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