title: Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
abstract: 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.
authors.affiliation: School of Nutrition and Health Science, Taipei Medical University, Taipei, Taiwan.
authors.forename: Sing-Chung
authors.initials: SC
authors.lastname: Li
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Ju-Li
authors.initials: JL
authors.lastname: Lin
authors.forename: Deeksha S
authors.initials: DS
authors.lastname: Bali
authors.forename: Chen
authors.initials: C
authors.lastname: Yang
authors.forename: Shih-Ming
authors.initials: SM
authors.lastname: Chu
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Hung-Chieh
authors.initials: HC
authors.lastname: Chou
authors.forename: Chien-Yi
authors.initials: CY
authors.lastname: Chen
authors.forename: Wu-Shiun
authors.initials: WS
authors.lastname: Hsieh
authors.forename: Po-Nien
authors.initials: PN
authors.lastname: Tsao
authors.forename: Yuan-Tsong
authors.initials: YT
authors.lastname: Chen
authors.forename: Ni-Chung
authors.initials: NC
authors.lastname: Lee
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D000483:Alleles; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D006011:Glycogen Storage Disease Type IV / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017384:Sequence Deletion
chemical_list: D015061:1,4-alpha-Glucan Branching Enzyme