Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (42)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Huie, M. L.
Right arrow Articles by Hlrschhorn, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Huie, M. L.
Right arrow Articles by Hlrschhorn, R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

OTHER

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)

M. L. Huie, A. S. Chen, S.Sklower Brooks1, A. Grix2 and R. Hlrschhorn*

New York University Medical Center, Department of Medicine, Division of Medical Genetics 550 First Avenue, New York, NY 10016, USA 1NYS Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road, Staten Island, NY 10314, USA 2UCLA/Davis, Department of Pediatrics/Medical Genetics Sacramento, CA, USA

*To whom correspondence should be addressed

Received February 16, 1994; Revised April 30, 1994; Accepted April 30, 1994

We identified the presumably rare event of de novo mutation in an autosomal recessive disorder, glycogen storage disease type II (GSDII). GSDII results from inherited deficiency of acid {alpha}-glucosidase (acid maltase) and both the expressed and structural gene (designated GAA) have been isolated. The mutation was a deletion of 13 nt of coding sequence ({Delta} nt 1456–1468) on the paternally derived allele of the proband. The {Delta} nt 1456–1468 results in a reading frameshift and a premature termination signal upstream of the enzyme catalytic site. Paternity was confirmed by presence of two downstream, uncommon amino acid substitutions (E689K, W746C) in both proband and father and by comparison of nine short tandem repeats. The maternal allele carried a newly identified deleterious C647W missense mutation in a highly conserved area of the protein. The C647W mutation was also found in a second unrelated proband, heteroallelic with a deletion extending from IVS17 to IVS18.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 NeurologyHome page
A. C. Nascimbeni, M. Fanin, E. Tasca, and C. Angelini
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
Neurology, February 19, 2008; 70(8): 617 - 626.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
H. M. P. van den Hout, W. Hop, O. P. van Diggelen, J. A. M. Smeitink, G. P. A. Smit, B.-T. T. Poll-The, H. D. Bakker, M. C. B. Loonen, J. B. C. de Klerk, A. J. J. Reuser, et al.
The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature
Pediatrics, August 1, 2003; 112(2): 332 - 340.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M. G E M Ausems, K. ten Berg, L. A Sandkuijl, M. A Kroos, A. F J Bardoel, K. N Roumelioti, A. J J Reuser, R. Sinke, and C. Wijmenga
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations
J. Med. Genet., August 1, 2001; 38(8): 527 - 529.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
R. HIRSCHHORN and M. L HUIE
Frequency of mutations for glycogen storage disease type II in different populations: the Delta 525T and Delta exon 18 mutations are not generally "common" in white populations
J. Med. Genet., January 1, 1999; 36(1): 85 - 86.
[Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.