Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family

Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family Publisher Pubmed

Abbasi F¹ ; Azizi F² ; Javaheri M² ; Mosallanejad A³ ; Ebrahimhabibi A^{4, 5} ; Ghafourifard S²

Show Affiliations

1. Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran
3. Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Biosensor Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
5. Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Gene Published:2015

Abstract

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.1061_1066del6, p.V355_S356del2) is shown to be segregated with the disease in this family. © 2014 Elsevier B.V.

Style	Citing Format
MLA	Abbasi F, et al.. "Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family." Gene, vol. 557, no. 1, 2015, pp. 103-105.
APA	Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahimhabibi A, Ghafourifard S (2015). Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family. Gene, 557(1), 103-105.
Chicago	Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahimhabibi A, Ghafourifard S. "Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family." Gene 557, no. 1 (2015): 103-105.
Harvard	Abbasi F et al. (2015) 'Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family', Gene, 557(1), pp. 103-105.
Vancouver	Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahimhabibi A, Ghafourifard S. Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family. Gene. 2015;557(1):103-105.
BibTex	@article{ author = {Abbasi F and Azizi F and Javaheri M and Mosallanejad A and Ebrahimhabibi A and Ghafourifard S}, title = {Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family}, journal = {Gene}, volume = {557}, number = {1}, pages = {103-105}, year = {2015} }
RIS	TY - JOUR AU - Abbasi F AU - Azizi F AU - Javaheri M AU - Mosallanejad A AU - Ebrahimhabibi A AU - Ghafourifard S TI - Segregation of a Novel Homozygous 6 Nucleotide Deletion in Glut2 Gene in a Fanconi-Bickel Syndrome Family JO - Gene VL - 557 IS - 1 SP - 103 EP - 105 PY - 2015 ER -

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