Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss： A Case Discussion
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2023.0221
- VernacularTitle:10q24.3缺失导致全面性发育迟缓的诊断方法探讨
- Author:
Yuan-hui DUAN
1
;
Jie CAO
1
;
Yue-xu OU
1
;
Jie-ling LI
1
Author Information
1. Department of General Medicine， Ministry of Education Key Laboratory of Child Development and Disorders， National Clinical Research Center for Child Health and Disorders， China International Science and Technology Cooperation Base of Child Development and Critical Disorders， Chongqing Key Laboratory of Pediatrics. Children’s Hospital of Chongqing Medical University， Chongqing 400014， China
- Publication Type:Journal Article
- Keywords:
10q24.3 heterozygous loss;
global developmental delay;
SUFU gene;
CNNM2 gene;
TRIM8 gene
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2023;44(2):348-353
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss. MethodsA retrospective analysis was conducted on the clinical data of one child with global developmental delay， and the results of low depth whole-genome copy number variation sequencing （CNVseq） and family whole exome sequencing （WES） of the child and his parents. ResultsThe patient was a 10-month-old male with developmental retardation in four areas， with some special features （ocular hypertelorism， strabismus， flat nose bridge， protruding forehead， cleft palate， high palatal arch， etc.） and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia， seizures， and mental retardation， and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome， we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene. ConclusionGenetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations， so as to make clear diagnosis and to judge prognosis.
