Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A

Clinical Endocrinology

Volumn 77, Issue 3, 2012, Pages 363-369

  Durmaz, Erdem ^a   Zou, Minjing ^b   Al Rijjal, Roua A ^b   Bircan, Iffet ^a   Akçurin, Sema ^a   Meyer, Brian ^b   Shi, Yufei ^b  

^a AKDENIZ UNIVERSITY   (Turkey)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM CARBONATE; OXYGENASE; PARATHYROID HORMONE; UNCLASSIFIED DRUG; VITAMIN D 1ALPHA HYDROXYLASE;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CYP27B1 GENE; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FAILURE TO THRIVE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOCALCEMIA; HYPOPHOSPHATEMIA; INTRON; MALE; MUSCLE WEAKNESS; NONSENSE MUTATION; OPEN READING FRAME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; TREATMENT RESPONSE; VITAMIN D DEPENDENT RICKETS TYPE 1A; WALKING DIFFICULTY;

25-HYDROXYVITAMIN D3 1-ALPHA-HYDROXYLASE; ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INTRONS; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; RICKETS; RNA SPLICE SITES; TURKEY; YOUNG ADULT;

EID: 84865018247     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04394.x     Document Type: Article

References (33)

1. Holick, M.F., (2007) Vitamin D deficiency. New England Journal of Medicine, 357, 266-281.
2. Miller, W.L., &, Portale, A.A., (2001) Genetics of vitamin D biosynthesis and its disorders. Best Practice & Research. Clinical Endocrinology & Metabolism, 15, 95-109.
3. Gupta, R.P., He, Y.A., Patrick, K.S., et al,. (2005) CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis. Journal of Clinical Endocrinology and Metabolism, 90, 1210-1219.
4. Cheng, J.B., Levine, M.A., Bell, N.H., et al,. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proceedings of the National Academy of Sciences of the USA, 101, 7711-7715.
5. Miller, W.L., (2005) Minireview: regulation of steroidogenesis by electron transfer. Endocrinology, 146, 2544-2550.
6. Miller, W.L., &, Portale, A.A., (2003) Vitamin D biosynthesis and vitamin D 1 alpha-hydroxylase deficiency. Endocrine Development, 6, 156-174.
7. Liu, S., &, Quarles, L.D., (2007) How fibroblast growth factor 23 works. Journal of the American Society of Nephrology, 18, 1637-1647.
8. Zehnder, D., Bland, R., Williams, M.C., et al,. (2001) Extrarenal expression of 25-hydroxyvitamin d(3)-1 alpha-hydroxylase. Journal of Clinical Endocrinology and Metabolism, 86, 888-894.
9. Fraser, D., Kooh, S.W., Kind, H.P., et al,. (1973) Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25- dihydroxyvitamin D. New England Journal of Medicine, 289, 817-822.
10. Fu, G.K., Lin, D., Zhang, M.Y., et al,. (1997) Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Molecular Endocrinology, 11, 1961-1970.
11. Kitanaka, S., Takeyama, K., Murayama, A., et al,. (1998) Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. New England Journal of Medicine, 338, 653-661.
12. Miller, W.L., &, Portale, A.A., (1999) Genetic disorders of vitamin D biosynthesis. Endocrinology and Metabolism Clinics of North America, 28, 825-840.
13. Kitanaka, S., Murayama, A., Sakaki, T., et al,. (1999) No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation. Journal of Clinical Endocrinology and Metabolism, 84, 4111-4117.
14. Wang, X., Zhang, M.Y., Miller, W.L., et al,. (2002) Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. Journal of Clinical Endocrinology and Metabolism, 87, 2424-2430.
15. Kim, C.J., Kaplan, L.E., Perwad, F., et al,. (2007) Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 92, 3177-3182.
16. Alzahrani, A.S., Zou, M., Baitei, E.Y., et al,. (2010) A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. Journal of Clinical Endocrinology and Metabolism, 95, 4176-4183.
17. Cao, L., Liu, F., Wang, Y., et al,. (2011) Novel vitamin D 1alpha-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient. Journal of Genetics, 90, 339-342.
18. Sovik, O., &, Boman, H., (2008) Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. Acta Paediatrica, 97, 665-667.
19. Miller, W.L., &, Portale, A.A., (2000) Vitamin D 1 alpha-hydroxylase. Trends in Endocrinology and Metabolism, 11, 315-319.
20. Wang, J.T., Lin, C.J., Burridge, S.M., et al,. (1998) Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. American Journal of Human Genetics, 63, 1694-1702.
21. Axen, E., Postlind, H., Sjoberg, H., et al,. (1994) Liver mitochondrial cytochrome P450 CYP27 and recombinant-expressed human CYP27 catalyze 1 alpha-hydroxylation of 25-hydroxyvitamin D3. Proceedings of the National Academy of Sciences of the USA, 91, 10014-10018.
22. Rowling, M.J., Gliniak, C., Welsh, J., et al,. (2007) High dietary vitamin D prevents hypocalcemia and osteomalacia in CYP27B1 knockout mice. Journal of Nutrition, 137, 2608-2615.
23. Tang, W., Norlin, M., &, Wikvall, K., (2007) Regulation of human CYP27A1 by estrogens and androgens in HepG2 and prostate cells. Archives of Biochemistry and Biophysics, 462, 13-20.
24. Akerstrom, G., Hellman, P., Hessman, O., et al,. (2005) Parathyroid glands in calcium regulation and human disease. Annals of the New York Academy of Sciences, 1040, 53-58.
25. Vanhooke, J.L., Prahl, J.M., Kimmel-Jehan, C., et al,. (2006) CYP27B1 null mice with LacZreporter gene display no 25-hydroxyvitamin D3-1alpha-hydroxylase promoter activity in the skin. Proceedings of the National Academy of Sciences of the USA, 103, 75-80.
26. Krawczak, M., Thomas, N.S., Hundrieser, B., et al,. (2007) Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Human Mutation, 28, 150-158.
27. Faustino, N.A., &, Cooper, T.A., (2003) Pre-mRNA splicing and human disease. Genes & Development, 17, 419-437.
28. Sakabe, N.J., &, de Souza, S.J., (2007) Sequence features responsible for intron retention in human. BMC Genomics, 8, 59.
29. Attanasio, C., David, A., &, Neerman-Arbez, M., (2003) Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood, 101, 1851-1856.
30. Porcu, L., Meloni, A., Casula, L., et al,. (2002) A novel splicing defect (IVS6 + 1G>T) in a patient with pseudovitamin D deficiency rickets. Journal of Endocrinological Investigation, 25, 557-560.
31. Burset, M., Seledtsov, I.A., &, Solovyev, V.V., (2001) SpliceDB: database of canonical and non-canonical mammalian splice sites. Nucleic Acids Research, 29, 255-259.
32. Kralovicova, J., Hwang, G., Asplund, A.C., et al,. (2011) Compensatory signals associated with the activation of human GC 5' splice sites. Nucleic Acids Research, 39, 7077-7091.
33. Chang, Y.F., Imam, J.S., &, Wilkinson, M.F., (2007) The nonsense-mediated decay RNA surveillance pathway. Annual Review of Biochemistry, 76, 51-74.