Summary
We report a 2-year-old boy with Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GK) and adrenal hypoplasia congenita (AHC). At three weeks of age, the patient was hospitalized for the first time with symptoms of hypotone dehydration because of AHC, At present, he shows severe muscular hypotonia and developmental delay. The patient and his family were referred to us for prenatal diagnosis and carrier testing in the mother of the patient and the mother's sister, respectively. The patient's DNA was examined by Southern blot and polymerase chain reaction analyses, using cDNA and genomic probes within and around the dystrophin (DYS) locus. A deletion was revealed, spanning DXS28, the whole dystrophin locus, DXS84 and DXS148, whereas DXS67, DXS68 (pter) and OTC (cen) were found to be retained. The cytogenetically visible microdeletion was also seen in the patient's mother, but not in the mother's sister or the patient's maternal grandmother. Our findings support the locus order pter-DXS67-DXS68-DXS28-AHC-GK-DMD-cen.
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References
Bartley J, Gies C (1989) A Xp21 deletion assigns locus DXS28 (C7) proximal to DXS68 (L1.4) and DXS67 (B24) and has the proximal breakpoint in the intron 3′ to first exon of DMD-8 (DMD exon 47) (abstract). (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:958–959.
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16: 11141–11156.
Davies KE, Patterson MN, Kenwrick, SJ, Bell MV, Sloan HR, Westman JA, Elsas LJ, Mahan J (1988) Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. Am J Med Genet 29:557–564.
Guggenheim MA, McCabe ERB, Roig M, Goodman, SI, Lum GM, Bullen WW, Ringel SP (1980) Glycerol kinase deficiency with neuromuscular, skeletal and adrenal abnormalities. Ann Neurol 7:441–449.
McCabe ERB, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI (1977) Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 78:1327–1333.
Norby S, Schwartz M (1987) Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrohpy. Clin Genet 31:192–197.
Roberts RG, Cole CG, Hart KA, Bobrow M, Bentley DR (1989) Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Res 17:812.
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972.
Wieringa B, Hustinx T, Scheres J, Reinier W, Ter Haar B (1985) Complex glycerol deficiency syndrome explained as X-chromosomal deletion. Clin Genet 27:522–523.
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Stuhrmann, M., Heilbronner, H., Reis, A. et al. Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. Hum Genet 86, 414–415 (1991). https://doi.org/10.1007/BF00201848
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DOI: https://doi.org/10.1007/BF00201848