Prenatal diagnosis of dystrophin gene mutations using multiplex ligation dependent probe amplification (MLPA) for duchene muscular dystrophy

Document Type

Case Report


Obstetrics and Gynaecology; Pathology and Laboratory Medicine


Duchene muscular dystrophy (DMD) is a common X-chromosomal recessive disorders caused by mutations in the dystrophin gene. Male children are primarily affected by the disease, characterized by progressive muscular wasting. The worldwide incidence of DMD is estimated at 1 in 3500 - 5000 male births. At present, there is no effective treatment for DMD, and there is a need for early diagnosis and pre-natal testing for dystrophin gene mutations. We describe the use of Multiple Probe Ligation and Amplification assay (MLPA) for diagnosis of dystrophin gene mutations in an amniocentesis sample tested at 16 weeks of gestation. The patient had a family history of DMD and also a child with DMD. In this case the sample was identified to be of a female fetus with a heterozygous deletion in dystrophin exons 49-50. Pre-natal diagnosis of DMD is an effective way for early identification of high risk cases suspected for DMD.


Biomedical Journal of Scientific & Technical Research