[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation].
We present a family with tuberous sclerosis complex type 1 (TSC1). The family is formed by six patients. Two sibs, female and male, both patients having minor signs of the disorder. The woman have two daughters, one of them with severe clinical and radiological features of TSC1, and the other who only has a small cutaneous acromic spot. The man has two sons, one with severe features of TSC1, and the other with cutaneous mini-lesions. DNA study of the two cousins, woman and man, with cutaneous mini-lesions, showed a mutation in the chromosome 9 (1749 del GA) (TSC1 ex 15) in both patients. No pathogenic mutation in the TSC2 gene was detected in the two cousins.
Pascual-Castroviejo
I
I
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid. pascas@inves.es
Pascual-Pascual
S I
SI
Velazquez
R
R
van den Ouweland
A M W
AM
Halley
D J J
DJ
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology