{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:54:23Z","timestamp":1761101663678},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,6]],"date-time":"2003-05-06T00:00:00Z","timestamp":1052179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type II (GSDII) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha glucosidase. Four novel mutations (C670T, G989A, G2188T, and \u0394 23 nt 828\u2010850) were identified in five Italian patients with the infantile form of the disease. The C670T mutation was present in two unrelated patients in heterozygosity; the effect on enzyme activity was assessed by in vitro expression. COS\u20101 cells expressing the C670T allele had a twofold higher activity than the negative control cells. The G989A and G2188T point mutations lead to the introduction of premature stop signals that results in truncated forms of alpha glucosidase. The in vitro expression of G2188T allele demonstrated no increment in activity compared to negative control. The frame shifting deletion of nucleotides 828\u2013850 was identified in one patient in heterozygosity. The shift in the reading frame introduces a stop codon 135 nucleotides downstream the deletion junction that results in a truncated protein without catalytic activity. Nested PCR screening showed that the mutation was carried by the mother and was absent in the other members of the family. The four novel severe mutations herein described concerned only infantile onset GSDII patients; the loss of enzyme activity is correlated with the severity of the disease. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20164","type":"journal-article","created":{"date-parts":[[2003,8,22]],"date-time":"2003-08-22T14:11:08Z","timestamp":1061561468000},"page":"225-230","source":"Crossref","is-referenced-by-count":13,"title":["Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II"],"prefix":"10.1002","volume":"121A","author":[{"given":"Maria Gabriela","family":"Pittis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Lisa E.","family":"Montalvo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Snjezana","family":"Miocic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Martini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Deganuto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manila","family":"Candusso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Ciana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Bembi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,11]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"1995 John Wiley & Sons New York FM Ausubel R Brent RE Kingston DD Moore JG Seidman JA Smith K Struhl Current protocols in molecular biology 8.5.7 9"},{"key":"e_1_2_6_3_1","article-title":"GSD type II: Description of four novel mutations in acid alpha glucosidase deficiency","volume":"69","author":"Bali D","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00247-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"13507","DOI":"10.1016\/S0021-9258(18)92727-4","article-title":"Human lysosomal alpha\u2010glucosidase. 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