Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations

Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations Publisher

Foroozani H¹ ; Abiri M^{2, 3} ; Salehpour S^{4, 5} ; Bagherian H⁶ ; Sharifi Z⁶ ; Alaei MR⁴ ; Khatami S⁷ ; Azadmeh S⁶ ; Setoodeh A⁸ ; Rejali L⁶ ; Rohani F^{9, 10} ; Zeinali S³

Show Affiliations

1. Department of Biology, Pharmaceutical Science Branch, Islamic Azad University, Tehran, Iran
2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
4. Pediatric Endocrinology and Metabolism, Mofid Childrenâ€™s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Genomic Research Center, Shaheed Beheshti University of Medical Sciences, Tehran, Iran
6. Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran
7. Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran
8. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
9. Endocrine Research Centre (Firouzgar), Institute of Endocrinology and Metabolism (Hemmat Campus), Tehran University of Medical Sciences, Tehran, Iran
10. Ali Asghar Childrenâ€™s Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: JIMD Reports Published:2015

Abstract

Newborn screening for PKU has been in practice in Iran since 2007. Some hyperphenylalaninemia cases have tetrahydrobiopterin (BH4) biosynthesis deficiency/disorder. Several genes including QDPR (encodes DHPR enzyme, the necessary cofactor for PAH activity) have been associated with the BH4. Mutations have been previously described in the QDPR gene. The incidence of BH4 deficiency is expected to be higher in Iran due to high rate of consanguineous marriages. We identified a total of 93 BH4-deficient families. A multiplex set of STR markers linked to 4 genes responsible for the BH4 deficiency (i.e., GCH1, PCBD1, PTS, and QDPR genes) was used to quickly determine which gene may be responsible to cause the disease. Mutation analysis of QDPR gene revealed some known and novel mutations. Our findings show that no common mutation predominates, and they are scattered in the gene in our population. © 2015, SSIEM and Springer-Verlag Berlin Heidelberg.

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Style	Citing Format
MLA	Foroozani H, et al.. "Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations." JIMD Reports, vol. 21, no. , 2015, pp. 123-128.
APA	Foroozani H, Abiri M, Salehpour S, Bagherian H, Sharifi Z, Alaei MR, Khatami S, Azadmeh S, Setoodeh A, Rejali L, Rohani F, Zeinali S (2015). Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations. JIMD Reports, 21(), 123-128.
Chicago	Foroozani H, Abiri M, Salehpour S, Bagherian H, Sharifi Z, Alaei MR, Khatami S, et al.. "Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations." JIMD Reports 21, no. (2015): 123-128.
Harvard	Foroozani H et al. (2015) 'Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations', JIMD Reports, 21(), pp. 123-128.
Vancouver	Foroozani H, Abiri M, Salehpour S, Bagherian H, Sharifi Z, Alaei MR, et al.. Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations. JIMD Reports. 2015;21():123-128.
BibTex	@article{ author = {Foroozani H and Abiri M and Salehpour S and Bagherian H and Sharifi Z and Alaei MR and Khatami S and Azadmeh S and Setoodeh A and Rejali L and Rohani F and Zeinali S}, title = {Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations}, journal = {JIMD Reports}, volume = {21}, number = {}, pages = {123-128}, year = {2015} }
RIS	TY - JOUR AU - Foroozani H AU - Abiri M AU - Salehpour S AU - Bagherian H AU - Sharifi Z AU - Alaei MR AU - Khatami S AU - Azadmeh S AU - Setoodeh A AU - Rejali L AU - Rohani F AU - Zeinali S TI - Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations JO - JIMD Reports VL - 21 IS - SP - 123 EP - 128 PY - 2015 ER -

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