Research progress on gene mutation in X-linked dominate hypophosphatemia rickets

LI Tian-tian; ZHANG Li-qin

doi:10.11852/zgetbjzz2017-25-12-13

PDF(438 KB)

Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (12) : 1233-1235. DOI: 10.11852/zgetbjzz2017-25-12-13

Research progress on gene mutation in X-linked dominate hypophosphatemia rickets

LI Tian-tian, ZHANG Li-qin

Author information +

History +

Abstract

Hypophosphatemic rickets is a hereditary rickets characterized by loss of renal phosphate,abnormalities of vitamin D metabolism and bone calcification.It can lead to bones dysplasia and teeth dysplasia.X-linked interdependent inheritance is the main genetic type.This paper reviews the PHEX gene mutation of X-linked hypophosphatemic anti-vitamin D rickets in order to provide the basis for gene research of rickets.

Key words

hypophosphatemic rickets / X linked dominant / gene mutation / PHEX genes

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

LI Tian-tian, ZHANG Li-qin. Research progress on gene mutation in X-linked dominate hypophosphatemia rickets[J]. Chinese Journal of Child Health Care. 2017, 25(12): 1233-1235 https://doi.org/10.11852/zgetbjzz2017-25-12-13

References

[1] 王静,金春莲,任梅宏,等.抗维生素D佝偻病PHEX基因突变分析[J].国际遗传学杂志,2008,31(4):251-254.
[2] Carpenter TO,Imel EA,Holm IA,et al.A clinician's guide to X-linked hypophosphatemia[J].J Bone Miner Res,2011,26(7):1381-1388.
[3] Cheon CK,Lee HS,Kim SY,et al.A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature[J].Ann Pediatr Endocrinol Metab,2014,19(1):36-41.
[4] Durmaz E,Zou M,Al-Rijjal RA,et al.Novel and de novo PHEX,mutations in patients with hypophosphatemic rickets[J].Bone,2013,52(1):286-291.
[5] Owen C,Chen F,Flenniken AM,et al.A novel Phex,mutation in a new mouse model of hypophosphatemic rickets?[J].J Cell Biochem,2012,113(7):2432-41.
[6] 宋莹.X-连锁低磷性佝偻病的诊治进展[J].国际儿科学杂志,2015,42(1):25-27.
[7] Yue H,Yu JB,He JW,et al.Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia[J].Plos One,2014,9(5):e97830-e97830.
[8] Ichikawa S,Traxler EA,Estwick SA.Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets[J].Bone,2008,43(4):663-666.
[9] 刘霜,魏珉,肖娟,等.3例低血磷性抗维生素D佝偻病的基因诊断及文献复习[J].中国当代儿科杂志,2014,16(5):518-523.
[10] Cheon CK,Lee HS,Kim SY,et al.A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature[J].Ann Pediatr Endocrinol Metab,2014,19(1):36-41.
[11] Kim J,Song J,Yang KH,et al.A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets[J].Ann Clin Lab Sci,2009,39(2):182.
[12] Ma SL,Vegawarner V,Gillies C,et al.Whole exome sequencing reveals novel PHEX splice site mutations in patients with hypophosphatemic rickets[J].Plos One,2015,10(6):e0130729.
[13] Poon KS,Sng AA,Ho CW,et al.Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant[J].J Investig Med High Impact Case Rep,2015,3(3):11-21.
[14] Kawahara T,Watanabe H,Omae R,et al.A novel PHEX mutation in Japanese patients with X-Linked hypophosphatemic rickets[J].Case Rep Genet,2015,2015:1-5.
[15] Yuan L,Wu S,Xu H,et al.Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing[J].Biol Chem,2015,396(1):27.
[16] Morey M,Castro-Feijóo L,Barreiro J,et al.Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study:Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with PHEX mutation type[J].BMC Med Genet,2011,12(1):116.