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Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20(More)
PURPOSE Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). METHODS After excluding mutations in the most common gene,(More)
Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical tests are used to confirm the clinical(More)
21-hydroxylase deficiency (21-OHD) accounts for the cause of 90-95% of congenital adrenal hyperplasia (CAH) cases. The world incidence of 21-OHD is 1:20,000 to 1:10,000 live births [1]. Prevalence of CAH trends to be high due to frequent consanguineous and first cousin marriages and underestimation because of stigmatization [2,3]. A range of clinical(More)
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7,(More)
Quantitative viral load monitoring is an important indicator of prognosis in human immunodeficiency virus type I (HIV-1). PCR-ELISA as a quantitative method is proven to be sensitive and specific for quantification of HIV-1. Extracted DNA of thirty seropositive and twenty seronegative individuals which were confirmed by ELISA and western blot were amplified(More)
GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders.(More)
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