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Title: Functional Consequences of Chromosomal Rearrangements in Neurodevelopmental Disorder
Keywords: Neurodevelopmental Disorders, Next Generation Sequencing, Cytogenetics, Disease Modelling, Induced Pluripotent Stem Cells
Issue Date: 15-Jan-2014
Source: KAGISTIA HANA UTAMI (2014-01-15). Functional Consequences of Chromosomal Rearrangements in Neurodevelopmental Disorder. ScholarBank@NUS Repository.
Abstract: Neurodevelopmental Disorders (NDDs) are heterogeneous groups of conditions characterized by impairments in cognition, communication and motor skills resulting from abnormal development of the central nervous system. The first aim of my study was to identify novel candidate genes in NDDs by performing genome paired-end tag sequencing in patients with unexplained NDDs carrying known chromosomal rearrangements. These analyses led to the identification of eight disrupted genes in the breakpoint regions of six patients, and two candidate genes (MED13L and GTDC1) were selected for further functional study. The second part of the study focused on characterizing one candidate gene, MED13L, and its potential involvement in the clinical manifestation seen in one patient. The third aim of the study was to functionally characterize the role of GTDC1 by using patient?s induced pluripotent stem cells (iPSCs)-derived neurons. Taken together, this study highlights the clinical relevance of gene disruptions due to chromosomal rearrangements, and provides novel insights into the functional impacts of individual gene disruption in patients with NDDs.
Appears in Collections:Ph.D Theses (Open)

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