{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:25:42Z","timestamp":1777659942862,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2010,6,1]]},"abstract":"<jats:p>We describe epidemiological, genetic, and clinical data of the 1124-2del mutation in the G6PT gene, detected in homozygosity in three glycogen storage disease type Ib patients of Sardinian origin. This mutation was found to be associated with four sequence variations: c.593 A&gt;T (p.N198I), c.625+19 C&gt;T, c.1062 C&gt;T (N354N), and c.1224 G&gt;A (p.T408T) in the G6PT gene. RNA studies were performed for c.1124-2del and c.625+19 C&gt;T. The c.1124-1del2 acceptor splicing mutation showed skipping of 31 nucleotides of exon 9 due to the activation of a downstream cryptic acceptor splice site in 1154-1155 nucleotide positions, resulting in a downstream stop codon at aa position 402. RNA analysis of c.625+19 C&gt;T variation showed a small amount of alternative splicing with skipping of exon 4, resulting in a stop codon at aa position 211. Our cases present most of features of the severe form of disease, including early onset with chronic neutropenia, frequent infections, and inflammatory bowel disease. Our results suggest a founder effect for glycogen storage disease type Ib that facilitates diagnosis using mutation analysis, sparing patients from liver biopsy. DNA-based diagnosis will enable us to make accurate determination of carrier status and prenatal diagnosis, thus improving genetic counseling.<\/jats:p>","DOI":"10.1089\/gtmb.2010.0024","type":"journal-article","created":{"date-parts":[[2010,6,26]],"date-time":"2010-06-26T15:04:05Z","timestamp":1277564645000},"page":"399-403","source":"Crossref","is-referenced-by-count":3,"title":["Molecular Analysis of Glycogen Storage Disease Type Ib in Sardinian Population: Evidence for a Founder Effect"],"prefix":"10.1177","volume":"14","author":[{"given":"Antonietta","family":"Zappu","sequence":"first","affiliation":[{"name":"Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Lilliu","sequence":"additional","affiliation":[{"name":"Ospedale Regionale per Le Microcitemie","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Anna","family":"Podda","sequence":"additional","affiliation":[{"name":"Ospedale Regionale per Le Microcitemie","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Loudianos","sequence":"additional","affiliation":[{"name":"Ospedale Regionale per Le Microcitemie","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,6,26]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.011"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.07-104851"},{"key":"e_1_3_2_4_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Diseases","author":"Chen YT","year":"2001","unstructured":"Chen YT. 2001. 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