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17
th
International Conference on
4
th
International Conference on
NEUROLOGY AND NEUROSCIENCE
&
MENTAL HEALTH AND PRIMARY CARE
October 16-18, 2017 | Toronto, Canada
J Neurol Neurorehabil Res 2017 | Volume 2 Issue 3
Molecular diagnostic yield of combined CNV and next generation sequencing in subjects with autism
spectrum disorder
Bashayer Al-Mubarak
1, 2
, Hesham AlDhalaan1
and
Nada AlTassan
1, 2
1
King Faisal Specialist Hospital & Research Center, Saudi Arabia
2
King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia
A
utism spectrum disorder (ASD) is a neurodevelopmental
disorder with substantial genetic and phenotypic
diversity. Structural alterations such as chromosomal
abnormalities and copy number variations (CNVs) were
the first culprits of ASD, however, they account for a small
portion of the total cases. After the emergence of next-
generation sequencing, the focus has shifted towards
investigating the role of inherited and de novo point
mutations using whole genome or whole exome approaches.
The steep price drop and improved speed of whole exome
sequencing (WES) have made this technology increasingly
available as a diagnostic tool for patients with complex
neurodevelopmental disorders. However, the clinical utility
of WES in ASD is generally understudied and is yet to be
determined in consanguineous populations. We describe
here a comprehensive molecular analysis pipeline that could
enable clinicians to establish molecular diagnosis with more
confidence and has the potential to better inform genetic
counseling. The study was performed on 135 individuals
with confirmed diagnosis of ASD from 23 multiplexes and
81 simplex Saudi families. All samples were subjected to
two step molecular evaluation. First, CNV analysis using
the Affymetrix Cytoscan HD followed by next-generation
sequencing using a customized gene-panel comprising
232 ASD associated genes developed by the Saudi Human
Genome project team. Also, WES was carried out in a subset
of samples in which no candidate variants were identified
by the two former approaches. Disordered sleep, chronic
headache, and decreased cognitive processing speed are
common and often untreatable manifestations of traumatic
brain injury that can devastate an individual’s quality of
life. Our results demonstrate the recoverability of chronic
symptoms beyond what was previously thought possible?
These findings have important applications in the fields of
applied neuroscience and rehabilitation.
Speaker Biography
Bashayer Al-Mubarak, PhD, Post-doctoral Research Fellow in the Behavioral Genetics
Unit part of the Department of Genetics at King Faisal Specialist Hospital and
Research Center, Riyadh, Saudi Arabia. She has completed her PhD in Neurobiology
at the University of Edinburgh, which was focused on studying the transcriptional
regulation of anti-oxidant defenses in neuronal and glial cells. Soon after obtaining
her degree, she did her first Post-doctoral Fellowship with Dr. Alexander Jeans at the
Department of Physiology Anatomy and Genetics (DPAG) in the University of Oxford,
where she worked on investigating the role of presynaptic voltage-gated calcium
channels in regulating a phenomenon known as “homeostatic synaptic plasticity”
(an endogenous regulatory mechanism that maintains neuronal activity with normal
levels) in hippocampal neurons. After completing her post at DPAG, she has joined
the Behavioral Genetics Unit and has been working since then, on the genetic basis of
neurodegenerative and neurodevelopmental diseases such as Parkinson’s, Autism and
Attention Deficit Hyperactivity Disorder.
e:
BAl-Mubarak@kfshrc.edu.sa