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Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.

Abstract：

BACKGROUND:X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. METHODS:We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. RESULTS:Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A>T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T>C in exon 22, resulting in p.F731S. CONCLUSIONS:We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Kang QL,Xu J,Zhang Z,He JW,Lu LS,Fu WZ,Zhang ZL

doi

10.1016/j.bbrc.2012.06.042

subject

Has Abstract

pub_date

2012-07-13 00:00:00

pages

793-8

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(12)01130-8

journal_volume

423

pub_type

杂志文章

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