Li Linfei, Luo Shuying, Zhang Yaodong, Shang Qing, Zhang Wancun, Liu Lei, Zhang Xiaoman, Mei Shiyue
Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1096-1099. doi: 10.3760/cma.j.cn511374-20221209-00855.
To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.
A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing.
The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c.561_567delACACGCA (p.Q187fs*7), which was classified as pathogenic (PVS1+PS2+PM2_Supporting).
The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.
分析1例患有迪亚斯 - 洛根综合征患儿的临床及基因特征。
选取2022年7月入住郑州大学附属儿童医院康复医学科的1例自幼存在言语障碍及精神运动发育迟缓的患儿作为研究对象。收集该患儿的临床资料。从患儿及其父母的外周血样本中提取基因组DNA。通过全外显子测序筛选潜在变异，并用桑格测序验证候选变异。
该患儿表现为全面发育迟缓、小头畸形、特殊面容及行为问题。基因检测发现BCL11A基因的一个新生变异，即c.561_567delACACGCA（p.Q187fs*7），被分类为致病性变异（PVS1+PS2+PM2_Supporting）。
BCL11A基因的杂合变异可能是该患儿患迪亚斯 - 洛根综合征的原因。上述发现丰富了BCL11A基因的表型和突变谱，为遗传咨询和临床决策提供了依据。
