Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Abstract

JGM tates confirmative genetic approach to patients with cardiomyopathy [5-7]. We report the case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset of hypertrophic cardiomyopathy (HCMP). Case A 24-month-old boy visited our endocrinology clinic, concerned with short stature and poor weight gain. His height was 78.9 cm (-2.03 standard deviation scroe [SDS]) and his weight was 9.2 kg (-2.66 SDS). He was born at 38 weeks gestation with 2.64 kg (-1.71 SDS) from non-consanguineous and healthy parents. He had an admission history of neonatal intensive care unit for transient tachypnea at newborn. On physical examina

Case Report: Danon Disease: Six Family Members and Literature Review

“…Missense mutation, recombination, or synonymous substitution are rare ( 6 ). It has been reported that the eight mutations of LAMP2 accounts for the specific manifestations of DD including microdeletions, insertions, non-sense point mutations, intronic point mutations and 10-bp deletion ( 19 ). In the present study, the c.963G > A mutation was a novel discovery.…”