PRENATAL-DIAGNOSIS OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A

A branch of a highly inbred family was referred for prenatal counselin g with an initial misdiagnosis of Becker Muscular Dystrophy (BMD) due to the limited clinical and laboratory data obtained in pre-dystrophin era and hidden family information. In a second branch of the family w ith a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) mol ecular studies revealed a homozygous 550 Delta A mutation in the calci um-activated neutral protease 3 (calpain 3, CANP3) gene in the affecte d members. Finally, in the third branch of the family, it turned out t hat both parents were heterozygous for the 550 Delta A mutation and th e 13-week-old fetus was homozygous. The same mutation subsequently als o was found in the first branch of the family. The parents were inform ed that the risk of their child of developing the disease would be ver y high given that he was carrying the same homozygous mutation of the other affected members. They were informed also that in another popula tion (in Reunion Island) the same disease does not necessarily follow such a simple pattern of inheritance, After counseling the parents dec ided to terminate the pregnancy. Copyright (C) 1996 Elsevier Science L td.