A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is characterized by renal magnesium wasting, hypercalciuria and eventually kidney failure which mostly affects children and young aged adults. Mutation of genes of claudin-16 and claudin-19 are involved in the pathogenesis of this disorder, which leads to renal magnesium and calcium wasting. A 35-year-old man with end-stage kidney disease (ESKD) was referred to our clinic due to bilateral nephrocalcinosis, detected by ultrasonographic study, for further evaluation.

Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.

Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics of cardiomyopathies. However, the diagnostic yield of genetic testing for each subtype of CMP fails to exceed 60%.

A Rare Mutation in the 2 Gene Can Cause Nonsyndromic Hearing Loss.

The gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.

Novel frameshift mutation in the gene responsible for Jervell and Lange-Nielsen syndrome.

Objectives: Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome.

Materials And Methods: Here we present a 3.

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

Background: One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome (LQTS). Whereas heterozygous mutations typically lead to the Romano-Ward type of LQTS, We have provided a further evidence for the recessive transmission of a novel KCNQ1 gene mutation in two consanguineous families for the first time in Iran.

Methods: Next generation sequencing, DNA Sanger sequencing and haplotype analysis were performed for genotype determination.

Report of a Triploid Fetus Identified in a Pregnancy with Oligohydramnios.

This report describes a pregnancy with a triploid fetus identified from a scan for anomalies at 18 weeks and confirmed by amniocentesis. A 29-year-old, primigravida woman was referred to our clinic for genetic counseling at 18 weeks of gestation because of a mild oligohydramnios due to amniotic fluid index (AFI) less than the fifth percentile in her 18th week. The woman underwent amniocentesis, which revealed a karyotype of 69,XXX.

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Background: Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on at least three chromosomal loci including 8q24.1 (), 11p11-p13 (), and 19p ().

Complex genetic background in a large family with Brugada syndrome.

The Brugada syndrome (BrS) is an inherited arrhythmia characterized by ST-segment elevation in V1-V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, although recent findings suggested a polygenic background.

Positive Brugada challenge test in V1 R-V3 R as a predictor of malignant prognosis in Brugada patients.

Background: The Brugada syndrome is a heterogeneous genetic disease that predisposes to life-threatening ventricular tachyarrhythmias and sudden cardiac death (SCD). The only proven way to prolong the survival of patients with Brugada syndrome is to implant an implantable cardioverter-defibrillator (ICD). This should be implanted for high-risk patients only.

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics.

Background: Brugada syndrome (BrS) is a primary arrhythmia syndrome characterized by the occurrence of malignant ventricular arrhythmias. Previously, the genes SCN1B, SCN3B, MOG1, and KCND3 have been associated with BrS. Recent data from exome screening efforts permit better discrimination between low-frequency genetic variants and true monogenetic disease-causing variants.

Accumulation of mitochondrial genome variations in Persian LQTS patients: a possible risk factor?

Background: Long QT syndrome (LQTS) is among arrhythmia disorders of the heart that causes sudden cardiac death in young individuals. As yet, most of investigations have focused on nuclear genome for finding genetic defects in this disorder, but some of the cases with LQTS cannot be explained by mutations of identified genes. On the other hand, it has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level.