0019 Extreme Trait Next Generation Sequencing Identifies AHDC1 as a Novel Candidate Gene in Obstructive Sleep Apnea

Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture.

Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with inherited diseases. Many studies have shown that the strategy has been broad and proficient due to its ability in detecting a high proportion of disease causing variants, using only a small portion of the genome. In this review we outline the main steps involved in WES, t...

Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequenci...

Apert Syndrome with Obstructive Sleep Apnea: A Case Report

Apert syndrome is a rare kind of craniosynostosis which is identified with fusion of cranial sutures during prematurity period and causes physical and intellectual disorders in younger ages. These patients may show symptoms of obstructive sleep apnea due to abnormal craniofacial shape. This article introduces a patient with Apert syndrome, with apnea symptoms, cyanosis, snoring, restlessness, n...

Is Apnea-Hypopnea Index a proper measure for Obstructive Sleep Apnea severity?