本文選題：低血磷性佝僂病　切入點(diǎn)：磷酸鹽調(diào)節(jié)基因　出處：《中國(guó)當(dāng)代兒科雜志》2017年05期

【摘要】：目的研究2例X-連鎖低血磷性佝僂病(XLH)患兒及家系磷酸鹽調(diào)節(jié)基因(PHEX)的突變類型,以明確其遺傳學(xué)病因。方法回顧性分析2例XLH患者臨床資料,應(yīng)用高通量測(cè)序技術(shù)從基因組水平對(duì)先證者的XLH致病基因PHEX進(jìn)行檢測(cè),并應(yīng)用PCR-Sanger測(cè)序法對(duì)突變基因的家系分布進(jìn)行驗(yàn)證。結(jié)果 2例患兒均檢測(cè)到PHEX基因新發(fā)突變,1例為移碼突變c.931dupC,導(dǎo)致翻譯提前終止,產(chǎn)生截短蛋白p.Gln311Profs*13;另1例為剪接位點(diǎn)突變IVS14+1GA,導(dǎo)致外顯子15跳躍,產(chǎn)生不完整的氨基酸鏈。2例患兒父母的基因表型均正常。結(jié)論 c.931dup C和IVS14+1GA是PHEX基因的兩個(gè)新突變,可能是XLH新的致病性突變。
[Abstract]:Objective to study the mutation types of phosphate regulatory gene pHEX in 2 children with X- linked hypophosphatosis rickets and their families, and to determine the genetic etiology. Methods the clinical data of 2 patients with XLH were retrospectively analyzed. High throughput sequencing technique was used to detect the XLH pathogenicity gene PHEX of the proband at the genomic level. The pedigree distribution of the mutant gene was verified by PCR-Sanger sequencing. Results the new mutation of PHEX gene was detected in 1 case of PHEX gene mutation c.931dupC, which led to the early termination of translation. The other one was splicing site mutation IVS14 1GA, which led to exon 15 jump and incomplete amino acid chain production. Conclusion c.931dup C and IVS14 1GA are two new mutations of PHEX gene. It may be a new pathogenicity mutation of XLH.
【作者單位】： 重慶醫(yī)科大學(xué)附屬兒童醫(yī)院內(nèi)分泌科;重慶醫(yī)科大學(xué)附屬兒童醫(yī)院核醫(yī)學(xué)科 兒童發(fā)育疾病研究教育部重點(diǎn)實(shí)驗(yàn)室兒童發(fā)育重大疾病國(guó)家國(guó)際科技合作基地兒科學(xué)重慶市重點(diǎn)實(shí)驗(yàn)室兒童腫瘤研究室;
【分類號(hào)】：R725.9

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