KANSL1基因突变导致Koolen-deVries综合征1例  

A case of Koolen-de Vries syndrome caused by KANSLl gene mutation

作　　者：李方宁 黄礼萍 潘宁 李朝阳[2] LI Fangning;HUANG Liping;PAN Ning;LI Chaoyang(Department of Pediatrics,Shanxi Medical University,Taiyuan,Shanxi 030000,China;Shanxi Children's Hospital,Taiyuan,Shanxi 030000,China)

机构地区：[1]山西医科大学儿科医学系,山西太原030000 [2]山西省儿童医院,山西太原030000

出　　处：《中国优生与遗传杂志》2024年第7期1439-1443,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的报道1例因KANSL1基因突变导致Koolen-de Vries综合征患儿的临床特点及治疗过程,分析总结本病特点及研究概况。方法采集患儿及双亲外周血行增强全外显子家系(含母子线粒体)、全基因组CNV检测,明确本患儿致病基因的基因型。结果该患儿KANSL1基因有1处杂合新发变异(c.1997A>G),据ACMG遗传变异分类标准与指南,评定为可能致病变异。结论Koolen-de Vries综合征具有多种临床表现,目前国内KANSL1基因变异致该病报道仅有1例。本患儿变异位点此前未见报道,表现为轻度智力落后、癫痫、语速慢,但无明显面部畸形,无先天性心脏病,经左乙拉西坦单药治疗效果好,为该综合征的1个轻型病例,预后可能较好。本报道将有助于积累治疗经验,提高临床工作者对本病的认识。Objective We report the clinical features and treatment course of one child with Koolen-de Vries syn-drome due to a mutation in the KANSLI gene,in order to outline the characteristics of the disease and provide a brief over-view on current research.Methods Peripheral blood was collected from the child and both parents for extended whole exome(including maternal and child mitochondria)and whole genome copy number variation(CNV)testing to determine the genotype of the causative gene in this child.Results The child had one heterozygous de novo variant in the KANSL1 gene(c.1997A>G),which is the probably damaging variant according to ACMG genetic variation classification criteria and guidelines.Conclusion Koolen-de Vries syndrome has a variety of clinical manifestations,and there is only one case of KANSL1 gene mutation causing this disease in Chinese reports.This child,whose variant locus has not been previously re-ported,showed mild intellectual disabilities,epilepsy,and slow speech,but had no obvious facial deformities,no congenital heart disease,and was well treated with levetiracetam monotherapy,representing a mild case of the syndrome with a poten-tially better prognosis.This report will help to accumulate therapeutic experience and improve the knowledge of clinical prac-titioners about this disorder.

关 键 词：Koolen-de Vries综合征 17q21.31微缺失 KANSL1基因 

分 类 号：R725.9[医药卫生—儿科]