https://scholars.lib.ntu.edu.tw/handle/123456789/525151
標題: | Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation | 作者: | Li S.-C. WUH-LIANG HWU Lin J.-L. Bali D.S. Yang C. Chu S.-M. YIN-HSIU CHIEN HUNG-CHIEH CHOU CHIEN-YI CHEN Hsieh W.-S. PO-NIEN TSAO Chen Y.-T. NI-CHUNG LEE |
公開日期: | 2012 | 卷: | 27 | 期: | 2 | 起(迄)頁: | 204-208 | 來源出版物: | Journal of Child Neurology | 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. ? SAGE Publications 2012. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84863165666&doi=10.1177%2f0883073811415107&partnerID=40&md5=3be15eb970496067b842684c37c2df1d https://scholars.lib.ntu.edu.tw/handle/123456789/525151 |
ISSN: | 0883-0738 | DOI: | 10.1177/0883073811415107 | SDG/關鍵字: | creatine kinase; Apgar score; article; artificial ventilation; bradycardia; cardiopulmonary insufficiency; case report; congenital disorder; creatine kinase blood level; cyanosis; exon; female; frameshift mutation; gene deletion; gene sequence; genetic association; glycogen storage disease type 4; heart left ventricle ejection fraction; human; hyperammonemia; hypoglycemia; infant; infant mortality; infantile hypotonia; male; muscle biopsy; neuromuscular disease; newborn; polymerase chain reaction; priority journal; small for date infant; 1,4-alpha-Glucan Branching Enzyme; Alleles; Fatal Outcome; Female; Frameshift Mutation; Glycogen Storage Disease Type IV; Humans; Infant; Infant, Newborn; Male; Sequence Deletion |
顯示於: | 醫學系 |
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