title: Prenatal diagnosis of limb-girdle muscular dystrophy type 2A.
abstract: A branch of a highly inbred family was referred for prenatal counseling 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 with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) molecular studies revealed a homozygous 550 delta A mutation in the calcium-activated neutral protease 3 (calpain 3, CANP3) gene in the affected members. Finally, in the third branch of the family, it turned out that both parents were heterozygous for the 550 delta A mutation and the 13-week-old fetus was homozygous. The same mutation subsequently also was found in the first branch of the family. The parents were informed that the risk of their child of developing the disease would be very high given that he was carrying the same homozygous mutation of the other affected members. They were informed also that in another population (in Reunion Island) the same disease does not necessarily follow such a simple pattern of inheritance. After counseling the parents decided to terminate the pregnancy.
authors.affiliation: Servizio di Genetica Medica, Azienda Ospedaliera San Giovanni Battista, Torino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: N
authors.initials: N
authors.lastname: Romero
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: M
authors.initials: M
authors.lastname: Pagliano
authors.forename: M
authors.initials: M
authors.lastname: Ferrone
authors.forename: A
authors.initials: A
authors.lastname: Carbonara
authors.forename: L
authors.initials: L
authors.lastname: Merlini
mesh_terms: D000328:Adult; D002154:Calpain / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003241:Consanguinity; D015853:Cysteine Proteinase Inhibitors / Q000235:genetics*; D004247:DNA / Q000097:blood; D005091:Exons; D005260:Female; D005333:Fetus; D005817:Genetic Counseling; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015853:Cysteine Proteinase Inhibitors; D004247:DNA; D002154:Calpain