Dissertation > Excellent graduate degree dissertation topics show

Neuronal Migration Disorders:DCX and LIS Mutations in Chinese Han Population

Author: LiNing
Tutor: LiuXingZhou
School: Capital University of Medical Sciences
Course: Neurology
Keywords: lissencephaly pachygyria neuronal migration disorders subcortical band heterotopia
CLC: R741
Type: Master's thesis
Year: 2013
Downloads: 4
Quote: 0
Read: Download Dissertation

Abstract

objective：To determine whether there are mutations in the DCX、LIS genes in patients who suffer from neuronal migration disorders in Chinese Han population, and further to study whether different types of Neuronal migration disorders had the same gene mutations.Methods: Patients suffer from neuronal migration disorders who were treated in Beijing Sanbo Brain Hospital were recruited into the study from March2011to March2012. These genes of DCX and LIS were identified by exome sequencing respectively in order to investigate the gene mutations of DCX and LIS in patients who suffer from neuronal migration disorders.Results:This report describes the imaging and genetic findings in6patients (NO.3-8) with pachygyria,2girls(NO.1-2) with subcortical band heterotopia.and8patients (NO.9-16)who suffer from oher types of neuron migration disorders, Anovel mismutation（c.405C>G，P.Asn135Lys）was identified in DCX in NO.3people with lissencephaly and another novel silent mutation (c.1818C/T) was found in LIS in these patient NO.3,5.In addition two reported mutation was identified in DCX in NO.1,2:c.572C>G(P.Thr191Arg) and c.646G>T(P.Val216Leu).These people(NO.9-16) have not gene mutations in DCX and LIS genes.Conclusion:1）Patients suffering from subcortical band heterotopia have DCX gene mutations which had been reported by others.2）Patients diagnosed as pachygyria have novel gene mutations,c.405C>G(P.Asn135Lys).3）The other types of neuronal migration disorders(including Polymicrogyria, Schizencephaly, subcortical band heterotopia etc) have no mutation in LIS and DCX genes.4）We want to validate a theory through the research,we can’t draw the final conclusion because of insuffient patiients and lacking of statistics.

Neuronal Migration Disorders:DCX and LIS Mutations in Chinese Han Population

Abstract

Related Dissertations