Gene: DCX

Alternate names for this Gene: DBCN|DC|LISX|SCLH|XLIS

Gene Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia ('double cortex' syndrome) in females and lissencephaly ('smooth brain' syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq23

Description of this Gene: doublecortin

Type of Gene: protein-coding

rs104894779 in DCX gene and Lissencephaly, X-Linked, 1 PMID 9489699 1998 A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

PMID 11601509 2001 Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

PMID 9618162 1998 doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

PMID 27292316 2016 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.

PMID 10807542 2000 Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

PMID 11175293 2001 Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

PMID 10369164 1999 A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

PMID 9489700 1998 Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

PMID 9668176 1998 Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

PMID 11468322 2001 Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

PMID 12390976 2002 Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PMID 9817918 1998 LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

PMID 9989615 1999 Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

PMID 12552055 2003 Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1556405129 in DCX gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.