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

E. R.B. McCabe, Jeffrey Towbin, J. Chamberlain, L. Baumbach, J. Witkowski, G. J.B. Van Ommen, M. Koenig, L. M. Kunkel, W. K. Seltzer

Research output: Contribution to journalArticle

47 Citations (Scopus)

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 ~ 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.

Original languageEnglish (US)
Pages (from-to)95-99
Number of pages5
JournalJournal of Clinical Investigation
Volume83
Issue number1
DOIs
StatePublished - Jan 1 1989

Fingerprint

Duchenne Muscular Dystrophy
DNA Probes
Muscular Diseases
Complementary DNA
Genes
Dystrophin
X-linked adrenal hypoplasia congenita
Hyperglycerolemia
DNA
Exons

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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. / McCabe, E. R.B.; Towbin, Jeffrey; Chamberlain, J.; Baumbach, L.; Witkowski, J.; Van Ommen, G. J.B.; Koenig, M.; Kunkel, L. M.; Seltzer, W. K.

In: Journal of Clinical Investigation, Vol. 83, No. 1, 01.01.1989, p. 95-99.

Research output: Contribution to journalArticle

@article{ee79ea59364443c18525f8d400d11b67,
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 ~ 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.",
author = "McCabe, {E. R.B.} and Jeffrey Towbin and J. Chamberlain and L. Baumbach and J. Witkowski and {Van Ommen}, {G. J.B.} and M. Koenig and Kunkel, {L. M.} and Seltzer, {W. K.}",
year = "1989",
month = "1",
day = "1",
doi = "10.1172/JCI113890",
language = "English (US)",
volume = "83",
pages = "95--99",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "The American Society for Clinical Investigation",
number = "1",

}

TY - JOUR

T1 - 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

AU - McCabe, E. R.B.

AU - Towbin, Jeffrey

AU - Chamberlain, J.

AU - Baumbach, L.

AU - Witkowski, J.

AU - Van Ommen, G. J.B.

AU - Koenig, M.

AU - Kunkel, L. M.

AU - Seltzer, W. K.

PY - 1989/1/1

Y1 - 1989/1/1

N2 - 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 ~ 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.

AB - 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 ~ 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.

UR - http://www.scopus.com/inward/record.url?scp=0024499182&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024499182&partnerID=8YFLogxK

U2 - 10.1172/JCI113890

DO - 10.1172/JCI113890

M3 - Article

VL - 83

SP - 95

EP - 99

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

SN - 0021-9738

IS - 1

ER -