A large Australasian cohort of patients with congenital muscular dystrophy (CMD) was screened to determine the frequency of various forms, in a study at Children's Hospital at Westmead; the University of Sydney; University of Melbourne, Australia; and University of Nevada, Reno; and University of Illinois, Chicago. Of 101 patients, 45% were screened by immunofluorescence and showed abnormal staining for glycosylated-a-dystroglycan (DG) in 25%. Half of these had reduced DG by Western Blot test. All patients with abnormal DG staining had DNA sequencing of the fukutin-related protein, fukutin, POMGnTl and POMT1 genes, and mutations were identified in one patient for each of the genes. Abnormalities in collagen VI immunofluorescence were identified in 12% of CMD patients, COL6 mutations in 8 of 9 patients tested, and laminin a-2 deficiency occurred in 8% of cases. [1]

COMMENT. Various histochemical and DNA sequencing abnormalities are identified in a large cohort of CMD cases. Patients with abnormal glycosylated adystroglycan immunofluorescence were most common in this cohort. Other studies have suggested that the cause of 50% of all CMDs is a primary deficiency in laminin a2, and Ullrich CMD is a second most common form. Molecular diagnostic testing is important for genetic counseling and an emerging new era of gene therapy. [2]