Neuropsychiatric disorder and gender

Details

Ressource 1Download: BIB_5E0B7FB7057C.P001.pdf (3480.50 [Ko])
State: Public
Version: After imprimatur
Serval ID
serval:BIB_5E0B7FB7057C
Type
A Master's thesis.
Publication sub-type
Master (thesis) (master)
Collection
Publications
Institution
Title
Neuropsychiatric disorder and gender
Author(s)
GOSSELIN M.
Director(s)
JACQUEMONT S.
Institution details
Université de Lausanne, Faculté de biologie et médecine
Publication state
Accepted
Issued date
2015
Language
english
Number of pages
30
Abstract
This study will focus on additional clinical symptoms in a small selected cohort of CNVs. The chromosomal region chosen, more distal of the 16p11.2 locus, is between BP2 and BP3, a second less frequent non-overlapping recurrent CNV encompassing nine genes including SH2B1 (28.73-28.9 Mb). (16) Bokuchova et al have reported an association between deletions encompassing this gene and severe early onset obesity, as well as insulin resistance. SH2B1 is known to modulate the signaling of ligands to JAK- associates cytokine receptors including insulin and leptin but also growth hormone (GH), and nerve growth factors (NGF). (17, 18)
In this research we will concentrate on the CNVs encompassing SH2B1 and build a clinical score, including: malformations, psychiatric diseases, anthropometric features, epileptic seizures, developmental delay and more, in order to analyze the clinical manifestations of a deletion or a duplication of this region and try to find gender differences in clinical phenotypes explaining a « female protective model ».
Keywords
Neurodevelopmental disorder, 16p11.2 locus, SH2B1, autism, psychiatric diagnosis, CNV (copy number variation), gender bias
Create date
01/09/2016 8:08
Last modification date
20/08/2019 14:16
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