Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene

Neurology

Volumn 57, Issue 2, 2001, Pages 327-330

  Demelas, Luisa ^a   Serra, G ^a   Conti, M ^a   Achene, A ^a   Mastropaolo, C ^a   Matsumoto, N ^b   Dudlicek, L L ^b   Mills, P L ^b   Dobyns, W B ^b   Ledbetter, D H ^b   Das, S ^b  

^a UNIVERSITY OF SASSARI   (Italy)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGYRIA; ALLELISM; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FAMILIAL DISEASE; GENE; GERM LINE; HETEROTOPIA; HETEROZYGOTE; HUMAN; ITALY; LYMPHOCYTE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SIBLING; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

EID: 0035942998     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.2.327     Document Type: Article

References (10)

1. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
2. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
3. A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome
4. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
5. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
6. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
7. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
8. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
9. Genetic and neuroradiological heterogeneity of double cortex syndrome
10. Doublecortin mutations cluster in evolutionarily conserved functional domains