The CLET (Collage Life Story Elicitation Technique) is a protocol to support individuals in their efforts to create their own life story.
The methodological approach used in this study included structured interviews embedded within the Collage Life Story Elicitation Technique. This study introduces a method with which it was possible to collect differentiated data from individuals with CHARGE Syndrome themselves through a guided creation of pictorial collages and a specialized interview technique based on their collages. However, identity research shifts the paradigm to the individual and their unique personality, which encourages professionals to apply their support or services to the human being rather than the disability. A review of the literature demonstrates that the vast majority of research regarding CHARGE Syndrome focuses on the medical, developmental, and family structures. This case study focuses on the development of identity of individuals with CHARGE Syndrome which is of concern to individuals with CHARGE Syndrome, their parents and the various professionals that provide support and service. It is recognized as the most common cause of congenital deafblindness. Department for Deafblindness, Institute for Special Needs, University of Education Heidelberg, Heidelberg, GermanyĬHARGE Syndrome is a genetic syndrome with a recognized pattern of features, and involves extensive medical and physical challenges.Parental testing and correlation with clinical phenotypes will be helpful in assessing the pathogenicity of these missense CHD7 variants.Ĭonclusions: Our results indicate that the use of targeted gene panels like the HaloPlex ICCG panel combined with a bench-top sequencer is useful as a cost-effective and rapid screening tool for molecular diagnosis of clinically heterogeneous disorders like CHARGE syndrome. Of the missense variants, the G1504E and T1910 variants are novel but the T894A variant has a population frequency of 0.004%. The R2631X and Q201X pathogenic variants have been previously reported in other patients with CHARGE syndrome. Results: Sanger sequencing confirmed two truncating and three missense heterozygous CDH7 variants in five children.
Candidate variants that are potentially pathogenic with population frequencies less than 1% were filtered and prioritized for confirmation by Sanger sequencing.
Charge syndrome conference 2015 software#
Variants were called using the Torrent Variant Caller and annotated using the web-based GeneTalk software (GmbH, Berlin, Germany). Sequences were mapped to the human reference genome (hg19). Methods: Patients with some clinical characteristics of CHARGE syndrome were sequenced using the Haloplex ICCG targeted panel (containing 180 genes including CHD7) on the Ion Torrent PGM. The aim of this study was to test the ability of a targeted gene panel and bench-top sequencing to molecularly diagnose patients with CHARGE syndrome. Molecular diagnosis based solely on Sanger sequencing is time consuming and less efficient. Advancement of next-generation sequencing technologies like the introduction of bench-top next-generation sequencers has enabled cost-effective and accurate detection of mutations in large genes or disorders which are difficult to diagnose clinically. CHD7 gene mutations accounted for more than half of patients with CHARGE syndrome. Mutations in chromodomain helicase DNA binding protein 7 ( CHD7) regulatory gene have been associated with this syndrome.
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