[Effect of the sex of the progenitor on the clinical manifestations of neurofibromatosis].
One hundred and twenty four patients with neurofibromatosis 1 (NF1) were assessed as whether the individual was a new mutation (68 cases) or born from an affected mother (27 cases) or an affected father (29 cases). For each case the clinical manifestations were recorded and the patients were grouped in four degrees of severity: minimal (1), mild (2), moderate (3) and severe (4). In the group of patients born to affected mothers, 33.3% had a degree 3 or 4 of severity in contrast with the 20.6% of those born to affected fathers. However the difference was not statistically significant. The frequency of the complications and their age of onset also suggested that patients born to affected mothers were more severely diseased. On the other hand, in the new mutation group, 35.2% of patients had degree 3 and 4 of severity. As 54% of our NF1 patients were new mutations and we do not know the proportion of paternal or maternal origin of the mutation, our results cannot support the hypothesis of a genomic imprinting in NF1 resulting in milder clinical manifestations when the gene is inherited from the father.
Carnevale
A
A
Servicio de Genética, Instituto Nacional de Pediatría, México, D.F.
Santillán
Y
Y
D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D005220:Fathers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009035:Mothers; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*
Efecto del sexo del progenitor sobre las manifestaciones clínicas de la neurofibromatosis.