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Article
Open AccessDetection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS ...
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Article
Open AccessExploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. D...
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Article
Open AccessA novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features
Primary carnitine deficiency (PCD) denotes low carnitine levels with an autosomal recessive pattern of inheritance. Cardiomyopathy is the most common cardiac symptom in patients with PCD, and early diagnosis c...
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Article
Open AccessA novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skel...
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Article
Open AccessA novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects
Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the heart and great vessels. CHD complications such as low birth weight, prematurity, pregnan...
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Article
Open AccessIdentification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile,...
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Article
Merkel cell polyomavirus IgG antibody levels are associated with progression to AIDS among HIV-infected individuals
The association of Merkel cell polyomavirus (MCPyV) with Merkel cell carcinoma (MCC) in immunocompromised individuals has been revealed in a number of surveys. The study of MCPyV specific antibody titers and vira...
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Article
Open AccessClear lens phacoemulsification in the anterior lenticonus due to Alport Syndrome: two case reports
Alport Syndrome has a prevalence of 1 case per 5,000 people and 85% of patients have the X-linked form, where affected males develop renal failure and usually have high-tone sensorineural deafness by age 20. T...
