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.
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.
ABSTRACT
Objective To investigate the expression of VIT-1 gene in melanocytes of patients with vitiligo, and to analyze the difference of its sequence. Methods The skin from the foreskins of healthy men by circumcision and from the non-lesional area on the buttocks of 5 patients were digested by dispase, then the epidermis and dermis were separated, and the melanocytes were isolated. Then we cultured the melanocytes from the controls in TICVA medium and those from the patients in TICVA medium supplemented with basic fibroblast growth factor (bFGF) and endothelin-1 ( ET-1). The expression of VIT-1 gene was measured by RT-PCR, the full-length cDNA of VIT-1 ORF was cloned and sequenced, and sequence difference was analyzed by CLUSTAL W ( 1.83 ) software. Results The expression levels of VIT-1 gene were significantly lower in melanocytes from the patients than in those from the controls. An 81 bp-intron was found in the VIT-1 ORF. VIT-1 was a fragment of FBXO11, located at its 3' end. Conclusion VIT-1 gene is not a new gene, but a fragment of FBXO11, and a member of F-box protein family.