染色体2p24.3p24.2微缺失所致Feingold综合征的临床特征与遗传学分析  

Clinical characteristics and genetic analysis of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion

作　　者：刘艳萍[1] 唐天骅 杨柳[1] 李婷婷[1] 曹睿明[1] 任纯明[1] 李岩[1] Liu Yanping;Tang Tianhua;Yang Liu;Li Tingting;Cao Ruiming;Ren Chunming;Li Yan(Department of Children′s Neurology,Henan Provincial People′s Hospital,Zhengzhou 450003,China;Department of Clinical Medicine,Henan Medical College of Zhengzhou University,Zhengzhou 450001,China)

机构地区：[1]河南省人民医院儿童神经科,郑州450003 [2]郑州大学河南医学院临床医学系,郑州450001

出　　处：《中华神经科杂志》2024年第1期54-60,共7页Chinese Journal of Neurology

摘　　要：目的探讨临床罕见的染色体2p24.3p24.2片段微缺失所致Feingold综合征的遗传学特点及临床表型特征。方法收集1例2021年11月就诊于河南省人民医院、诊断为2号染色体2p24.3p24.2微缺失所致Feingold综合征Ⅰ型(FGLDS1)患儿的临床资料。总结该患儿的临床及基因变异特点,并回顾截至2022年11月文献报道的10例2号染色体片段微缺失患儿的临床资料。结果患儿男性,12岁5个月,有体格发育落后、运动发育迟缓、智力低下、肢体及面容特殊、指发育畸形等表现,伴多动及攻击性行为、冲动易怒自伤等行为问题。先证者染色体核型分析未见异常;基因组拷贝数变异测序和家系全外显子基因测序结果示染色体2p24.3p24.2区域存在约2.61 Mb杂合缺失:seq[GRCH37]del(2)(p24.3p24.2)NC_000002.11:g.15590168_18195971del,缺失区域内有包括MYCN基因(第1~3号外显子)在内的10个基因,其父母染色体此区域无异常。总结了11例(包括此例)2号染色体微缺失患者的遗传学特征,结果发现11例患者均存在染色体2p微缺失导致的MYCN基因的单倍体剂量不足,临床特征均符合FGLDS1的临床诊断。结论先证者符合典型Feingold综合征的临床表现,2号染色体微缺失导致的MYCN基因单倍体剂量不足是先证者的遗传学病因。Objective To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1(FGLDS1)associated with chromosome 2p24.3p24.2 microdeletion were collected.The clinical and genetic variation characteristics of the patient were summarized,and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results The boy was 12 years and 5 months old.He presented with backward physical development,motor development retardation,low intelligence,special body and facial appearance,finger developmental deformity and other manifestations,accompanied by hyperactivity and aggressive behavior,impulsive irritability,self-injury and other behavior problems.The proband showed normal chromosome karyotype;the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region,and 10 genes including MYCN gene(exons 1 to 3)in the deleted region.The same deletion was not found in either of his parents.The genetic features of 11 cases(including this case)with chromosome 2p microdeletion were summarized,all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion,and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1.Conclusion The proband is consistent with the clinical presentation of the typical Feingold syndrome,and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.

关 键 词：2p24.3p24.2微缺失 Feingold综合征 MYCN基因 

分 类 号：R725.9[医药卫生—儿科]