Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

Details

Serval ID
serval:BIB_E0BEA144FEFD
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Prenatal diagnosis of limb-girdle muscular dystrophy type 2A
Journal
Neuromuscular Disorders
Author(s)
Restagno  G., Romero  N., Richard  I., Beckmann  J. S., Pagliano  M., Ferrone  M., Carbonara  A., Merlini  L.
ISSN
0960-8966 (Print)
Publication state
Published
Issued date
05/1996
Volume
6
Number
3
Pages
173-6
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
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.
Keywords
Adult Calpain/*genetics Chromosome Mapping Chromosomes, Human, Pair 15 Consanguinity Cysteine Proteinase Inhibitors/*genetics DNA/blood Exons Female Fetus Genetic Counseling Heterozygote Homozygote Humans Male Muscular Dystrophies/*diagnosis/embryology/*genetics Pregnancy Prenatal Diagnosis
Pubmed
Web of science
Create date
25/01/2008 16:17
Last modification date
20/08/2019 16:04
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