新复合杂合突变致婴儿型低磷酸酯酶症1例及其家系分析

发布时间：2018-03-15 17:45

  本文选题：低磷酸酯酶症　切入点：ALPL基因　出处：《中国当代儿科杂志》2017年05期 　论文类型：期刊论文

【摘要】：该文对1例婴儿型低磷酸酯酶症(HPP)患儿及其家系进行临床特点分析及碱性磷酸酯酶基因(ALPL)检测。先证者,男,5个月,多发骨骼畸形:胸骨凹陷、双侧桡骨弯曲畸形、双膝外翻畸形,伴喂养困难、体重下降、发育迟滞、反复肺炎并呼衰,血碱性磷酸酶显著降低。患儿父母、姐姐、叔父、姨母(其他家系成员未能配合)中除父母及姨母的碱性磷酸酶略低,姨母可见脊柱侧弯畸形,余均无临床表型及实验室异常。患者ALPL基因检测到来源于母亲的c.228delG突变及来源于父亲的c.407GA复合杂合突变,其姨母携带c.228delG突变。c.407GA突变为已报道的HPP致病突变,c.228delG为新的致病性突变。低磷酸酯酶症是由ALPL基因突变所致,ALPL基因检测是有效的诊断方法。该研究拓展了ALPL基因突变谱,为HPP的基因诊断提供了理论依据。
[Abstract]:A case of infantile hypophosphatase syndrome (HPP) and its pedigree were analyzed and ALPLs were detected. The proband, male, 5 months old, had multiple bone deformities: sternum depression, bilateral radial curvature. Double knee valgus deformity, accompanied by feeding difficulties, weight loss, stunting development, recurrent pneumonia and respiratory failure, blood alkaline phosphatase decreased significantly. Apart from parents and aunts whose alkaline phosphatase levels were slightly lower, aunt (other family members failed to cooperate) showed scoliosis deformity. There were no clinical phenotypic or laboratory abnormalities in all patients. The mutation of c. 228delG from mother and compound heterozygosity of c. 407GA from father were detected in ALPL gene of patients. Its aunt carried c. 228delG mutation. C.407GA mutation into reported HPP pathogenicity mutation c. 228delG is a new pathogenicity mutation. Low phosphatase disease is an effective diagnostic method for ALPL gene mutation. This study has expanded the ALPL gene mutation spectrum. It provides a theoretical basis for the gene diagnosis of HPP.
【作者单位】： 广西医科大学第一附属医院儿科;
【基金】：广西医科大学第一附属医院科研启动基金资助项目(No.2010001)
【分类号】：R726.8
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本文编号：1616284