Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

Annals of Neurology

Volumn 50, Issue 4, 2001, Pages 547-551

  Kato, Mitsuhiro ^a   Kanai, Masayo ^a   Soma, Osamu ^a   Takusa, Yuichi ^a   Kimura, Toshiyuki ^a   Numakura, Chikahiko ^a   Matsuki, Takasumi ^a   Nakamura, Shigeki ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; DOUBLECORTIN; MICROSATELLITE DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAIR ANALYSIS; HAIR ROOT; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MOLECULAR GENETICS; MOSAICISM; PRIORITY JOURNAL; SCHOOL CHILD;

CEREBRAL CORTEX; CHILD; GENETIC SCREENING; HAIR FOLLICLE; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; MICROTUBULE-ASSOCIATED PROTEINS; MOSAICISM; NEUROPEPTIDES; POLYMORPHISM, SINGLE NUCLEOTIDE; X CHROMOSOME;

EID: 0034795551     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1231     Document Type: Article

References (17)

1. Lissencephaly and other malformations of cortical development: 1995 Update
2. Diffuse cortical dysplasia, or the 'double cortex' syndrome: The clinical and epileptic spectrum in 10 patients
3. Doublecortin, a brainspecific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
4. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
5. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
6. Band heterotopia or double cortex in a male: Bridging structures suggest abnormality of the radial glial guide system
7. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
8. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
9. DNA typing from single hairs
10. A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia
11. DXS10011 typing by capillary electrophoresis
12. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts
13. Morphogenesis and renewal of hair follicles from adult multipotent stem cells
14. Evidence for the derivation of individual hair roots from three progenitor cells
15. Pathogenesis of chromosomal mosaicism and its effect on early human development
16. Genetic and neuroradiological heterogeneity of double cortex syndrome
17. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia