Xp21邻近基因缺失综合征1例并文献复习

XP21 CONTIGUOUS GENE DELETION SYNDROME: A CASE REPORT AND LITERATURE REVIEW

目的探讨Xp21邻近基因缺失综合征的诊断方法,以便改善患者预后。方法回顾性分析我科1例Xp21邻近基因缺失综合征患儿的临床资料,并对相关文献进行复习。结果患儿以新生儿期黄疸起病,诊断为杜氏肌营养不良,出现进行性皮肤色素沉着和精神运动发育落后;2岁时因肾上腺危象首次来我院就诊,伴血清肌酸激酶和三酰甘油显著升高、肝功能损害及甘油尿,经微阵列比较基因组杂交技术明确X染色体短臂p21.3-p21.1区域6.73×10^6 bp大片段缺失,包括NROB 1、GK、DMD和IL 1 RAPL 1基因,最终诊断为Xp21邻近基因缺失综合征。结论Xp21邻近基因缺失综合征临床表现多样,诊断困难,需总结病例特点,选择恰当、敏感基因检测技术进行精准诊断,以便改善患儿预后。

Objective To investigate the diagnostic methods for Xp21 contiguous gene deletion syndrome,and to improve patients’prognosis.Methods A retrospective analysis was performed for the clinical data of a child with Xp21 contiguous gene deletion syndrome who were treated in our department,and the relevant literature was reviewed.Results The child had the onset of jaundice in the neonatal period and was diagnosed with Duchenne muscular dystrophy,and then progressive skin pigmentation and delayed mental and motor development were observed.At the age of 2 years,the child attended our hospital for the first time due to adrenal crisis with substantial increases in serum creatine kinase and triglyceride,liver impairment,and an ele-vated urinary glycerol concentration.Array-based comparative genomic hybridization showed a pathogenic 6.73×10^6 bp deletion in the short arm of chromosome X(Xp21.3-p21.1),including NROB1,GK,DMD,and IL1RAPL1 genes,and therefore,the child was diagnosed with Xp21 contiguous gene deletion syndrome.Conclusion Xp21 contiguous gene deletion syndrome has diverse clinical manifestations and is difficult to diagnose.Related clinical features should be analyzed to select appropriate and sensitive gene testing techniques for accurate diagnosis,so as to improve the prognosis of children.