一例新生儿甲状旁腺功能减低-感音神经性耳聋-肾发育不良综合征患儿的临床及遗传学分析  

Clinical and genetic analysis of a newborn with hypoparathyroidism,sensorineural hearing loss,and renal dysplasia syndrome

作　　者：邵巧燕[1] 吴沛霖 林碧云 陈森婧 刘健[1] 陈素清[1] Shao Qiaoyan;Wu Peilin;Lin Biyun;Chen Senjing;Liu Jian;Chen Suqing(Department of Neonatology,the First Affiliated Hospital of Fujian Medical Universily,Fuzhou,Fujian 35005,China)

机构地区：[1]福建医科大学附属第一医院新生儿科,福州350005

出　　处：《中华医学遗传学杂志》2022年第2期222-226,共5页Chinese Journal of Medical Genetics

摘　　要：目的分析甲状旁腺功能减低-感音神经性耳聋-肾发育不良(hypoparathyroidism-sensorineural deafness-renal dysplasia, HDR)综合征的临床表型与基因变异特点。方法对1例HDR综合征新生儿进行全基因组拷贝数变异(copy number variation, CNVs)以及外显子组检测, 并分析其临床资料和相关文献。结果患儿为男性, 新生儿期起病, 表现为特殊面容、通贯掌、骶尾部赘生物。血清学检查提示低钙血症、低甲状旁腺激素。听力检测提示双侧感音神经性耳聋。超声检查提示右肾缺如, CNVs检测提示染色体10p15.3-p13(chr10: 105 001_12 815 001)区存在12.71 Mb的缺失, 全外显子测序提示GATA3基因缺失。患儿经补充钙剂及维生素D治疗, 病情有所好转。结论患儿的10p15.3-p13缺失与甲状旁腺功能减退、感音神经性耳聋和右肾缺如等临床表型相关。HDR综合征是罕见的遗传性疾病, 应提高对其的认识, 减少漏诊。Objective To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism,sensorineural hearing loss,and renal dysplasia(HDR)syndrome.Methods The child was subjected to genome-wide copy number variation(CNVs)analysis and whole exome sequencing(WES).Clinical data of the patient was analyzed.A literature review was aLso carried out.Results The patient,a male neonate,had presented with peculiar facial appearance,simian crease and sacrococcygeal mass.Blood test revealed hypocalcemia,hypoparathyroidism.Hearing test suggested bilateral sensorineural deafness.Doppler ultrasound showed absence of right kidney.Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13(chr10:105001_12815001)region.WES confirmed haploinsufficiency of the GATA3 gene.With supplement of calcium and vitamin D,the condition of the child has improved.Conclusion The deletion of 10pl5.3pl3 probably underlay the HDR syndrome in this patient.

关 键 词：甲状旁腺功能减低感音神经性耳聋-肾发育不良综合征 甲状旁腺功能减退症 感音神经性耳聋 肾发育不良 GATA3基因 

分 类 号：R722.1[医药卫生—儿科]