Clinical Genetics
Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia
Guo Jiajia, Tian Yuan, Wang Huijuan, Wang Jinguang, Fan Xufang, Xu Falin, Shang Lihong, Zhang Xiaoli
Published 2023-09-10
Cite as Chin J Med Genet, 2023, 40(9): 1134-1139. DOI: 10.3760/cma.j.cn511374-20220603-00380
Abstract
ObjectiveTo explore the clinical characteristics and genetic basis for a child with X-linked lissencephaly with abnormal genitalia (XLAG).
MethodsA child with XLAG who had presented at the Third Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to high-throughput sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the result was analyzed by using bioinformatic software.
ResultsThe child was found to have harbored a hemizygous c. 945_948del variant in exon 2 of the ARX gene, which as a frameshifting variant has resulted in a truncated protein. His mother was found to be heterozygous for the variant, whilst his father was of wild type. The variant was unreported previously.
ConclusionThe hemizygous c. 945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.
Key words:
ARX gene; Genetic variant; Lissencephaly; Abnormal genitalia
Contributor Information
Guo Jiajia
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Tian Yuan
Department of Laboratory Medicine, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Wang Huijuan
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Wang Jinguang
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Fan Xufang
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Xu Falin
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Shang Lihong
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
Zhang Xiaoli
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, China
