29 November 1996
1) Is anyone doing prenatal testing for FGFR2 mutations? I have a family with a first child with Pfeiffer who may be interested. I know that other gene mutations have been found in children with Pfeiffer, but, based upon observation that Pfeiffer children who are more 'Apert-like' have their mutations in FGFR2, I believe that this is the correct gene for this child. Neither parent is affected, so their recurrence risk is very low, but they have asked the question. Along that line, though, has anyone ever hear of gonadal mosaicism for FGFR mutations?
2) I had a patient with alpha thallasemia, ambiguous genitalia and other anomalies. I am interested in evaluation of his helicase gene. Is anyone interested? The child has died, but we have cultured fibroblasts.