title: Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
abstract: Genomic DNA from a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia was investigated using cDNA probes for the Duchenne muscular dystrophy (DMD) locus. Genomic probes had not detected a deletion in this patient. Southern analysis of Hind III-digested genomic DNA from this patient identified a deletion when the three distal Hinc II DMD cDNA fragments were used as probes. The deletion began in the genomic region corresponding to the 1.05-kb Hinc II cDNA fragment and extended through the 3' end of the DMD gene. This represents a centromeric breakpoint that corresponds to a position approximately 10.2-10.6 kb from the 5' end of the 14-kb DMD cDNA. These investigations demonstrate the value of the DMD cDNA probes for improved diagnoses in patients with molecular lesions involving the DMD locus. Furthermore, this novel deletion involving the coding portion of the 3' end of the DMD gene assists in the ordering of exons in this region and will provide insight into the functional role of the carboxy terminus of the DMD gene product, dystrophin.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
authors.forename: J
authors.initials: J
authors.lastname: Towbin
authors.forename: J
authors.initials: J
authors.lastname: Chamberlain
authors.forename: L
authors.initials: L
authors.lastname: Baumbach
authors.forename: J
authors.initials: J
authors.lastname: Witkowski
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: M
authors.initials: M
authors.lastname: Koenig
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
authors.forename: W K
authors.initials: WK
authors.lastname: Seltzer
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D015342:DNA Probes; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D010770:Phosphotransferases / Q000172:deficiency*; D013577:Syndrome
chemical_list: D015342:DNA Probes; D004247:DNA; D010770:Phosphotransferases; D005991:Glycerol Kinase