NDLI: The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Please wait, while we are loading the content...

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q

Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Rate of homologous chromosome bivalents in spermatocytes may predict completion of spermatogenesis in azoospermic men

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism

Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum

Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia

Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm

The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population

Critique of “Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension” by Rutherford et al., Human Genetics, published online September 2001

Authors response to: Critique of "Chromosome 17 and inducible nitric oxide synthase gene in human essential hypertension" by Rutherford et al. in Human Genetics published on-line September 2001

Ulrich R. Hengge, Beatrix Volc-Platzer (eds): The skin and gene therapy

Joyce C. Harper, Joy D.A. Delhanty, Alan H. Handyside (eds): Preimplantation genetic diagnosis

Acknowledgement to Referees 2001

Human Genetics : Volume 109

Human Genetics : Volume 108

Human Genetics : Volume 107

Human Genetics : Volume 106

Human Genetics : Volume 105

Human Genetics : Volume 104

Human Genetics : Volume 103

Human Genetics : Volume 102

Human Genetics : Volume 101

Human Genetics : Volume 100

Human Genetics : Volume 99

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Content Provider	Springer Nature Link
Author	Santer, René Groth, Sebastian Kinner, Martina Dombrowski, Anja Berry, Gerard T. Brodehl, Johannes Leonard, James V. Moses, Shimon rgren, Svante Skovby, Flemming Schneppenheim, Reinhard Steinmann, Beat Schaub, Jürgen
Copyright Year	2001
Abstract	We report a total of 23 novel mutations of the SLC2A2 (GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected. Thus, our results confirm that mutations of SLC2A2 are the basic defect in patients with FBS. Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations. No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected.
Starting Page	21
Ending Page	29
Page Count	9
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	110
Issue Number	1
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2001-11-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

A novel mutation of the glut2 gene in a turkish patient with fanconi-bickel syndrome.

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.

Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome

Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

Mutations in SLC2A2 Gene Reveal hGLUT2 Function in Pancreatic β Cell Development

A mutation screen in patients with Kabuki syndrome

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Similar Documents

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

A novel mutation of the glut2 gene in a turkish patient with fanconi-bickel syndrome.

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.

Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome

Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

Mutations in SLC2A2 Gene Reveal hGLUT2 Function in Pancreatic β Cell Development

A mutation screen in patients with Kabuki syndrome

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome