Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 41; no. 5; p. 533
• Main Authors: Li, Yan, Qin, Litao, Yang, Ke, Chen, Xin, Zhu, Hongjie, Mi, Luya, Wang, Yaoping, Ma, Xinrui, Liao, Shixiu
• Format: Journal Article
• Language: Chinese
• Published: China 10.05.2024
• Subjects: Child; Child, Preschool; China; East Asian People - genetics; Exome Sequencing; Female; Genetic Testing - methods; Guanine Nucleotide Exchange Factors - genetics; Histone Acetyltransferases; Humans; Infant; Intellectual Disability - genetics; Male; Mental Retardation, X-Linked - genetics; Methyl-CpG-Binding Protein 2 - genetics; Mutation; Pedigree; TATA-Binding Protein Associated Factors - genetics; Transcription Factor TFIID - genetics; X Chromosome Inactivation; China
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.cn511374-20230808-00048

To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID). Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were selected as the study subjects. Clinical data of the probands and their pedigree members were collected. Trio-whole exome sequencing (Trio-WES), Sanger sequencing and X chromosome inactivation (XCI) analysis were carried out. Pathogenicity of candidate variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics and co-segregation analysis. The 17 probands, including 9 males and 8 females with an age ranging from 0.6 to 8 years old, had all shown mental retardation and developmental delay. Fourteen variants were detected by genetic testing, which included 4 pathogenic variants (MECP2: c.502C>T, MECP2: c.916C>T/c.806delG, IQSEC2: c.1417G>T), 4 likely pathogenic variants (MECP2: c