Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
Eur J Hum Genet
; 8(7): 552-6, 2000 Jul.
Article
de En
| MEDLINE
| ID: mdl-10909857
ABSTRACT
Duchenne muscular dystrophy is associated with variable degrees of selective cognitive defect with lower scores for verbal intelligence and reading abilities. A number of findings have shown that rearrangements located in the second part of the gene seem to be preferentially associated with cognitive impairment. Several dystrophin transcripts are expressed in the brain. The more distal of them, Dp71, is predominant. We have carried out a mutational analysis of Dp71 transcript in 12 DMD patients severely, mildly or not retarded, all without detectable deletion or duplication. We have detected five point mutations causing Dp71 premature translation termination. All were found among the more severely mentally retarded patients of this group (VIQ < 50 and/or no reading acquisition).
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Dystrophine
/
Mutation ponctuelle
/
Troubles de la cognition
/
Myopathie de Duchenne
Type d'étude:
Diagnostic_studies
/
Screening_studies
Limites:
Adolescent
/
Child
/
Humans
Langue:
En
Journal:
Eur J Hum Genet
Sujet du journal:
GENETICA MEDICA
Année:
2000
Type de document:
Article
Pays d'affiliation:
France