Case report of intellectual developmental disorder with dysmorphic facies and behavioral abnormalities due to FBXO11 gene mutation
10.3760/cma.j.cn101070-20210519-00559
- VernacularTitle:FBXO11基因突变致智力发育障碍伴畸形面容和行为异常1例
- Author:
Ying REN
1
;
Wandong HU
;
Zaifen GAO
;
Yao MENG
;
Guifu GENG
;
Ruifeng JIN
;
Jianguo SHI
;
Hongwei ZHANG
Author Information
1. 山东大学附属儿童医院神经内分泌科，济南 250022
- Keywords:
FBXO11 gene;
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(18):1415-1417
- CountryChina
- Language:Chinese
-
Abstract:
A retrospective analysis was performed on the clinical data of a case of intellectual developmental disorders with dysmorphic facies and behavioral abnormalities admitted in the Department of Neurology and Endocrinology, Children′s Hospital Affiliated to Shandong University in February 2020.The proband was a 3 years and 6 months old boy, who was hospitalized because of " convulsions for more than 1 year" . Physical examination revealed facial deformities.Gesell developmental schedule showed that adaptive and gross motor behavior development was severely retarded, and fine motor, language and personal-social behavior development was moderately retarded.Brain magnetic resonance imaging suggested schizencephaly.Electroencephalogram results indicated extensive discharges mainly in bilateral anterior head areas, and one myoclonic seizure was detected.Gene detection results disclosed the pathogenic variation of the proband, which was a heterozygote mutation (c.2480_2484del) in FBXO11 gene.High-throughput sequencing technology increases the possibility of identifying potential genetic mutations as the cause of disease.Patients with recurrent seizures, multi-malformation and general developmental delays should undergo gene detection in time to clarify the etiology.This technique can guide prenatal diagnosis and genetic counseling.
