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

Sing Chung Li, Wuh Liang Hwu, Ju Li Lin, Deeksha S. Bali, Chen Yang, Shih Ming Chu, Yin Hsiu Chien, Hung Chieh Chou, Chien Yi Chen, Wu Shiun Hsieh, Po Nien Tsao, Yuan Tsong Chen, Ni Chung Lee

研究成果: 雜誌貢獻文章

10 引文 斯高帕斯(Scopus)

摘要

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.

原文英語
頁(從 - 到)204-208
頁數5
期刊Journal of Child Neurology
27
發行號2
DOIs
出版狀態已發佈 - 二月 2012

    指紋

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

引用此

Li, S. C., Hwu, W. L., Lin, J. L., Bali, D. S., 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. (2012). Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. Journal of Child Neurology, 27(2), 204-208. https://doi.org/10.1177/0883073811415107