{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:46:29Z","timestamp":1777311989026,"version":"3.51.4"},"reference-count":25,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder caused by mutations in <jats:italic>SLC2A2<\/jats:italic> encoding the glucose transporter 2 (GLUT2) protein. The clinical manifestations include hepatomegaly, conditional hypo\/hyperglycemia, rickets, short stature and proximal renal tubular dysfunction. GLUT2 regulates monosaccharide homeostasis through sugar sensing and transmembrane transportation during high\/low glucose levels. In the current study, we present two siblings suffering from FBS. The patients presented with doll-like facies, failure to gain weight and height, abdominal distension and firm hepatomegaly. The family had a history of deaths of twin male siblings in the neonatal period and twin female siblings at ages 10 months and 2.5 years, respectively. Clinical presentation and biochemical investigations including a complete blood count, electrolytes, liver and renal function tests suggested FBS. Mutation screening of <jats:italic>SLC2A2<\/jats:italic> confirmed the diagnosis with identification of a novel homozygous splice site variant predicting an in-frame deletion [p.(Gly166-S169del)] in the GLUT2 protein. The <jats:italic>in-silico<\/jats:italic> analysis predicted the variant to affect the three-dimensional conformation of the fourth transmembrane helix of the encoded protein, rendering the non-functionality of GLUT2 in both patients of the family under study.<\/jats:p>","DOI":"10.1515\/jpem-2019-0235","type":"journal-article","created":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T09:54:31Z","timestamp":1567331671000},"page":"1229-1233","source":"Crossref","is-referenced-by-count":5,"title":["Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel <i>SLC2A2<\/i> splice site variant"],"prefix":"10.1515","volume":"32","author":[{"given":"Hajira","family":"Batool","sequence":"first","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology , Quaid-i-Azam University , Islamabad , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bibi","family":"Zubaida","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology , Quaid-i-Azam University , Islamabad , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Almas","family":"Hashmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Holy Family Hospital , Rawalpindi Medical University , Rawalpindi , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology , Quaid-i-Azam University , Islamabad , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"key":"2023040101012430672_j_jpem-2019-0235_ref_001_w2aab3b7c12b1b6b1ab1b6b1Aa","doi-asserted-by":"crossref","unstructured":"Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, et al. 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