Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of Genetic Medicine
; : 87-91, 2018.
Article
en En
| WPRIM
| ID: wpr-719108
Biblioteca responsable:
WPRO
ABSTRACT
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Cardiomiopatía Hipertrófica
/
Tamizaje Masivo
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Exones
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Causas de Muerte
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Mutación del Sistema de Lectura
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Enfermedades Raras
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Enfermedad por Depósito de Glucógeno de Tipo IIb
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Proteína 2 de la Membrana Asociada a los Lisosomas
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Insuficiencia de Crecimiento
/
Exoma
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Journal of Genetic Medicine
Año:
2018
Tipo del documento:
Article