A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

doi:10.1016/j.ejpn.2016.05.010

Article

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Tsai Meng-Han, Kuo Pei-Wen, Myers Candace T, Li Shih-Wen, Lin Wei-Che, Fu Ting-Ying, Chang Hsin-Yun, Mefford Heather C, Chang Yao-Chung, Tsai Jin-Wu

Abstract excerpt

PURPOSE: To study the genetics and functional alteration of a family with X-linked lissencephaly and subcortical band heterotopia. METHODS: Five affected patients (one male with lissencephaly, four female with subcortical band heterotopia) and their relatives were studied. Sanger sequencing of DCX gene, allele specific PCR and molecular inversion probe technique were performed. Mutant and wild type of the gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

Abstract excerpt

Topics

Related research