Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene
10.3760/cma.j.cn511374-20230515-00288
- VernacularTitle:CLTC基因变异致智力发育障碍伴癫痫1例患儿的临床表型及遗传学分析
- Author:
Zaoye XIE
1
;
Chengyan LI
;
Chaohong CHEN
;
Binglong HUANG
;
Ling LIU
;
Dang AO
Author Information
1. 广东医科大学附属医院儿童医学中心，湛江 524000
- Keywords:
CLTC gene;
Intellectual developmental disorder;
Epilepsy;
Infant
- From:
Chinese Journal of Medical Genetics
2024;41(7):817-820
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods:A child who was admitted to the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c. 3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The c. 3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.
