In this study we performed a next generation sequencing of 210 genes in 140 patients with cardiac failure requiring heart transplantation. We identified total 48 candidate variants 47 patients. Forty-three (90%) presented single variant, and fourpatients (10%) were carriers two variants. After refining the classification, pathogenic or likely variant 13 (10% our cohort). 34 additional cases (25...

Objective: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins and characterized hypertrophy of the heart muscle. 
 Materials Methods: In present study, 21 patients with HCM some their parents were evaluated via next-generation sequencing (NGS) using a targeted panel 17 genes. Results: Pathogenic or likely pathogenic variants detec...

PURPOSE To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD). METHODS A 63-year-old man presenting with the complaint of decreased vision in one eye was noted to have a unilateral lattice corneal dystrophy. Examination of the patient's wife and two sons, ages 20 and 27 years old, failed to reveal th...

X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened f...

Abstract Funding Acknowledgements Type of funding sources: None. Background In the last decades, implementation high-throughput next-generation (NGS) technologies has profoundly changed landscape human genome sequencing. However, molecular diagnosis in cardiac hereditary diseases is still hampered by incomplete penetrance, variable expressivity, and genetic heterogeneity diseases. Objective We ...

BACKGROUND A comprehensive network-based understanding of molecular pathways abnormally altered in glioblastoma multiforme (GBM) is essential for developing effective therapeutic approaches for this deadly disease. METHODOLOGY/PRINCIPAL FINDINGS Applying a next generation sequencing technology, massively parallel signature sequencing (MPSS), we identified a total of 4535 genes that are differ...

PURPOSE To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene. METHODS In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologi...

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin X...

A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 famili...