一种新的疑似RMRP突变导致软骨–毛发发育不全:一例报告  

A New Suspected RMRP Mutation Causing Cartilage-Hair Hypoplasia: A Case Report

作　　者：刘雨欣 赵靖彤 万晓峥 孔德先 甘可欣[5] 吕秀芹[5] 章冬梅[5] 马博清[5] 刘晶[5] 马慧娟 

机构地区：[1]华北理工大学临床医学院,河北 唐山 [2]河北医科大学临床医学院,河北 石家庄 [3]河北北方学院研究生院,河北 张家口 [4]河北中石油中心医院内分泌科,河北 廊坊 [5]河北省人民医院内分泌科,河北 石家庄 [6]河北医科大学第一医院内分泌科,河北 石家庄

出　　处：《临床个性化医学》2025年第1期661-671,共11页Journal of Clinical Personalized Medicine

摘　　要：目的:分析一例软骨–毛发发育不良(CHH)患儿的临床特征及基因变异特点。方法:回顾分析1例CHH患儿的临床资料及相关实验室检查结果,对先证者父母及其进行家系全外显子测序。结果:矮小患儿表现为生长发育迟缓,发育落后、特殊面容(头发颜色偏黄,内眦赘皮,腭弓稍高),给予生长激素治疗,生长速度改善不明显,基因测序显示患者是RMRP基因c.-90-425G>A,杂合突变,目前国内外尚未见报道。结合患儿临床表现及检查结果,诊断为CHH。结论:临床上特殊类型矮小患儿应尽早行全外显子测序和Sanger测序,以明确诊断。关键软骨–毛发发育不良,RMRP基因,身材矮小 [-rId9-]Yuxin Liu1, Jingtong Zhao2, Xiaozheng Wan3, Dexian Kong4, Kexin Gan5, Xiuqin Lyu5, Dongmei Zhang5, Boqing Ma5, Jing Liu5*, Huijuan Ma61Clinical Medical College, North China University of Science and Technology, Tangshan Hebei2Clinical College of Hebei Medical University, Shijiazhuang Hebei3Graduate School of Hebei North University, Zhangjiakou Hebei4Department of Endocrinology, Hebei Petrol China Central Hospital, Langfang Hebei5Department of Endocrinology, Hebei General Hospital, Shijiazhuang Hebei6Department of Endocrinology, The First Hospital of Hebei Medical University, Shijiazhuang HebeiReceived: Jan. 24th, 2025;accepted: Feb. 17th, 2025;published: Feb. 27th, 2025[-rId9-]AbstractObjective: To analyze the clinical features and genetic variation of a child with Cartilage-hair hypoplasia (CHH). Methods: The clinical data and laboratory test results of one child with CHH were retrospectively analyzed, and the parents of the proband and their families were sequenced by whole exon. Results: The patient presented with growth retardation, developmental lag, and special features (yellow hair color, epicanthus, and slightly high palatal arch). The patient was diagnosed as short stature in another hospital and was treated with growth hormone, with no obvious improvement in growth rate. Gene sequencing show

关 键 词：身材矮小 发育不全 发育不良 基因突变 尿液分析 骨髓移植 左旋多巴 携带者 

分 类 号：R73[医药卫生—肿瘤]