Gene mutation analysis of X-linked hypophosphatemic rickets

SONG Ying; MA Hong-Wei; LI Fang; HU Man; REN Shuang; YU Ya-Fen; ZHAO Gui-Jie

doi:10.7499/j.issn.1008-8830.2013.11.002

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Chinese Journal of Contemporary Pediatrics ›› 2013, Vol. 15 ›› Issue (11) : 928-931. DOI: 10.7499/j.issn.1008-8830.2013.11.002

TOPIC OF GENETIC DISEASE

Gene mutation analysis of X-linked hypophosphatemic rickets

SONG Ying, MA Hong-Wei, LI Fang, HU Man, REN Shuang, YU Ya-Fen, ZHAO Gui-Jie

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Abstract

To investigate the frequency and type of PHEX gene mutations in children with X-linked hypophosphatemic rickets (XLH), the possible presence of mutational hot spots, and the relationship between genotype and clinical phenotype. Methods Clinical data of 10 children with XLH was retrospectively reviewed. The relationship between gene mutation type and severity of XLH was evaluated. Results PHEX gene mutations were detected in all 10 children with XLH, including 6 cases of missense mutation, 2 cases of splice site mutation, 1 case of frameshift mutation, and 1 case of nonsense mutation. Two new mutations, c.2048T>C and IVS14+1delAG, were found. The type of PHEX gene mutation was not associated with the degree of short stature and leg deformity (P=0.571 and 0.467), and the mutation site was also not associated with the degree of short stature and leg deformity (P=0.400 and 1.000). Conclusions Missense mutation is the most common type of PHEX gene mutation in children with XLH, and c.2048T>C and IVS14+1delAG are two new PHEX gene mutations. The type and site of PHEX gene mutation are not associated with the severity of XLH.

Key words

X-linked hypophosphatemic rickets / PHEX gene / Child

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SONG Ying, MA Hong-Wei, LI Fang, HU Man, REN Shuang, YU Ya-Fen, ZHAO Gui-Jie. Gene mutation analysis of X-linked hypophosphatemic rickets[J]. Chinese Journal of Contemporary Pediatrics. 2013, 15(11): 928-931 https://doi.org/10.7499/j.issn.1008-8830.2013.11.002

References

[1] Zivicnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, et al. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion[J]. J Clin Endocrinol Metab, 2011, 96(12): 2097-2105.

[2] Bastepe M, Juppner H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation[J]. Rev Endocr Metab Disord, 2008, 9(2): 171-180.

[3] 曾畿生, 王德芬. 现代儿科内分泌学—基础与临床[M]. 上海: 上海科学技术文献出版社, 2001: 298-302.

[4] Holm IA, Huang X, Kunkel LM. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets[J]. Am J Hum Genet, 1997, 60(4): 790-797

[5] 任利彬, 叶玲. X连锁磷酸盐调节基因的进展[J] .国际口腔医学杂志, 2008, 35(4): 399-401.

[6] Tyynismaa H, Kaitila I, Nanto-Salonen K, Ala-Houhala M, Alitalo T. Identification of fifteen novel PHEX gene mutations in Finnish patientswith hypophosphatemic rickets[J]. Hum Mutat, 2000, 15(4): 383-384.

[7] Jap TS, Chiu CY, Niu DM, Levine MA. Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability[J]. Calcified Tissue Int, 2011, 88(5): 370-377 .

[8] Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, et al. Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets[J]. Calcified Tissue Int, 2007, 81(6): 415-420.

[9] Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL, Van YH. Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets[J]. Nephron Physiol, 2006, 103(4): 157-163.

[10] Chou YY, Chao SC, Tsai SC, Lin SJ. Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemicrickets[J].J Formos Med Assoc, 2005, 104(3): 198-202.

[11] Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets[J]. J Clin Endocrinol Metab, 2001, 86(8): 3889-3899.

[12] Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC. PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets[J]. J Korean Med Sci, 2007, 22(6): 981-986.