摘要
报告1例GNB1基因突变所致全面发育迟缓患儿的临床表现和遗传学特点。患儿,男,1岁5月龄,临床表现主要为全面发育迟缓,格里菲斯(Griffiths)发育评估提示发育落后。外显子测序技术检测到患儿存在GNB1基因第6号外显子杂合错义变异c.224A>G(p.Gln75Arg),父母该位点均未见异常,提示患儿为新发突变。Sanger测序验证结果与外显子测序结果一致。结合患儿的临床表现和基因检测结果,诊断为常染色体显性智力障碍42型(autosomal dominant mental retardation-42,MRD42)。治疗方法为继续康复训练、特殊教育等综合治疗,提高患儿的智力功能水平、社会生活能力以及生活自理能力。GNB1基因的新发突变为该患儿的遗传学病因,且新型变异c.224A>G(p.Gln75Arg)扩大了GNB1基因的致病突变谱。
We present a case report of a child who has global developmental delay due to GNB1 gene mutation and the clinical manifestations and genetic characteristics.The clinical manifestations of the boy who was 1 year and 5 months old were mainly overall developmental delays,the Griffiths developmental assessment suggesting developmental delay.The exon sequencing technique detected a heterozygous missense variant c.224A>G(p.Gln75Arg)in exon 6 of the GNB1 gene,suggesting a de novo mutation,the parents did not carry the mutation.The boy was diagnosed with autosomal dominant mental retardation-42(MRD42).The boy was treated with rehabilitation training,special education and other comprehensive treatment to improve the boy's intellectual function level,social life ability and self-care ability.This study showed that a de novo mutation in the GNB1 gene was the genetic cause of the boy,and the novel variant c.224A>G(p.Gln75Arg)expanded the spectrum of pathogenic mutations in the GNB1 gene.
作者
何雪梅
邹卓
张杨萍
郑楠
任坚
周易青
黄浩宇
尹树月
刘芸
HE Xuemei;ZOU Zhou;ZHANG Yangping;ZHENG Nan;REN Jian;ZHOU Yiqing;HUANG Haoyu;YIN Shuyue;LIU Yun(Department of Rehabilitation,Kunming Children's Hospital,25 Shulin Street,Kunming,Yunan 650228,China)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2022年第5期299-302,共4页
Chinese Journal of Nervous and Mental Diseases
基金
昆明市儿童医院康复科(昆明650034)。
关键词
GNB1
基因
全面发育迟缓
智力障碍
新发
外显子测序
GNB1 gene
Global developmental delay
Intellectual disability
De novo
Exome sequencing
作者简介
通信作者:刘芸,(E-mail:liuyun@etyy.cn);何雪梅,Tel:0871-63309339.
