DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. 11749114 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations. 10430413 1999
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. 26743950 2016
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. 16724181 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE The genetic analysis of human brain malformations has identified several biochemical players in this process, including doublecortin (DCX) and LIS1, mutations of which cause a profound migratory disturbance known as lissencephaly ('smooth brain') in humans. 11389474 2001
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE We previously showed that mutations in LIS1 and DCX account for approximately 85% of patients with the classic form of lissencephaly (LIS). 20466733 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients. 15921228 2005
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. 19050731 2009
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE The doublecortin (DCX) gene, mutated in X-linked human lissencephaly, has 2 close paralogs, doublecortin-like kinase 1 and 2 (Dclk1 and 2). 18075264 2008
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected. 12034802 2002
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. 9489699 1998
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE An ovel mutation (c.83_84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia. 22408144 2012
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Hemizygous DCX mutations in males result in lissencephaly. 22833188 2012
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS). 10807542 2000
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE The effect of several mutations leading to lissencephaly and double-cortex syndrome can be traced to the domain swap and the proposed self-association of doublecortin. 29717716 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS (or DCX) gene. 12185771 2002
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. 23365099 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 GeneticVariation disease BEFREE Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or "doublecortex". 15719169 2005
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR. 23583063 2013
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE The protein encoded by this gene is 2,156 amino acids and its function is currently unknown, although the amino terminus has similarity to that of the doublecortin protein, whose gene (DCX) has been implicated in lissencephaly in humans. 10391212 1999
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease MGD Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice. 16571605 2006
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE Mutations in the microtubule-associated protein doublecortin (DCX) cause type I (X-linked or XLIS) lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in females, with defects in neuron migration during development affecting cortical lamination. 25817838 2015
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease. 28924182 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE The two most common genes mutated in patients with lissencephaly are LIS1 and DCX. 20688183 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.300 Biomarker disease BEFREE XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. 15816977 2005