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Article

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.

Journal of human genetics - 1 Mar 2016

Weng Chen, Chen Jiao, Sun Li, Zhou Zhong-Wei, Feng Xue, Sun Jun-Hui, Lu Ling-Ping, Yu Ping, Qi Ming

Abstract excerpt

X-linked dominant hypophosphatemic rickets (XLHR), is characterized mainly by renal phosphate wasting with hypophosphatemia, short stature and abnormal bone mineralization. PHEX, located at Xp22.1-p22.2, is the gene causing XLHR. We aim to characterize the pathogenesis of a Chinese boy who is apparently 'heterozygous' in PHEX gene. Direct sequencing showed two peaks: one was a wild-type 'G' and the other was one...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26559751
DOI: 10.1038/jhg.2015.133

Genes

PHEX

Variants

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A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets.PMID 26559751Read ↗

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Identification of a Novel Pathogenic Variant in the PHEX Gene and Its Mechanistic Implications in X-Linked HypophosphatemiaSemantic proximity Read ↗

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