ISSN:
1435-232X
Schlagwort(e):
Key wordsDCX gene
;
Subcortical laminar heterotopia
;
Isolated lissencephaly sequence
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Biologie
,
Medizin
Notizen:
Abstract 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). Polymerase chain reaction (PCR) disclosed a deletion of part of the DCX gene in one male ILS patient. Single-strand conformational polymorphism analysis and subsequent sequence analysis were carried out in the remaining seven patients. One male ILS patient had a nonsense mutation in exon V, which would result in premature termination of the gene product. One female SCLH patient had a missense mutation in exon IV. Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s100380050204
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