Journal of pediatric endocrinology & metabolism : JPEM · 2013
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод в очереди
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Yang Lili, Yang Jianbin, Huang Xinwen
Аннотация
OBJECTIVE: X-linked hypophosphatemic (XLH) rickets is caused by inactivating mutations in the PHEX gene, which encodes a metalloprotease that cleaves small peptide hormone. So far there are only a few reports on XLH patients from China. In the present study, we report on six XLH patients from one family. A PHEX missense mutation was found in exon 22, and a literature review on the mutations of Chinese patients was undertaken.
CASE DESCRIPTION: The family included six XLH patients with five females and one male (the proband). All the patients showed a low serum phosphorus, increased blood alkaline phosphatase and normal calcium levels. Mutation analysis revealed a PHEX mutation in exon 22 (c.2237G>A). In total, 15 PHEX mutations have been reported in Chinese populations at this time.
CONCLUSION: These data extend the spectrum of mutations in the PHEX gene in Chinese populations.
CASE DESCRIPTION: The family included six XLH patients with five females and one male (the proband). All the patients showed a low serum phosphorus, increased blood alkaline phosphatase and normal calcium levels. Mutation analysis revealed a PHEX mutation in exon 22 (c.2237G>A). In total, 15 PHEX mutations have been reported in Chinese populations at this time.
CONCLUSION: These data extend the spectrum of mutations in the PHEX gene in Chinese populations.