Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Journal Article (Journal Article)

Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. Here, we report 2 unrelated infants who were born small for their gestational age and who had profound hypotonia at birth and thus needed mechanical ventilation. Both of these patients shared the same frameshift mutation (c.288delA, pGly97GlufsX46) in the GBE1 gene. In addition, both of these patients were found to have 2 different large deletions in the GBE1 gene; exon 7 and exons 2 to 7, respectively, on the other alleles. This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal.

Full Text

Duke Authors

Cited Authors

  • Li, S-C; Hwu, W-L; Lin, J-L; Bali, DS; Yang, C; Chu, S-M; Chien, Y-H; Chou, H-C; Chen, C-Y; Hsieh, W-S; Tsao, P-N; Chen, Y-T; Lee, N-C

Published Date

  • February 2012

Published In

Volume / Issue

  • 27 / 2

Start / End Page

  • 204 - 208

PubMed ID

  • 21917543

Electronic International Standard Serial Number (EISSN)

  • 1708-8283

Digital Object Identifier (DOI)

  • 10.1177/0883073811415107


  • eng

Conference Location

  • United States