Wang Qiong, Yang Ying, Liu Lili, Tie Xiaoling, Lei Haihong, Zhang Liyu, Che Fengyu
Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1111-1115. doi: 10.3760/cma.j.cn511374-20210928-00783.
To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation.
Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed.
The child was found to harbor a heterozygous NM_001193416.3: c.1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents.
The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.
分析1例患有X连锁智力障碍患儿的临床特征及基因变异情况。
分别采用全外显子测序和桑格测序进行变异检测及家系验证，并回顾DDX3X基因变异患者的临床表现。
发现该患儿携带DDX3X基因杂合变异NM_001193416.3:c.1332_1333delCT（p.Leu445Serfs*19），其父母均未检测到该变异。
该患儿因DDX3X基因变异被诊断为X连锁智力障碍。上述发现丰富了DDX3X基因变异谱，为该家系的临床诊断及产前诊断提供了依据。
