Back to Search
Start Over
Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report
- Source :
- BMC Pediatrics, BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020)
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
Abstract
- Background Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medical imaging features and gene variation. The aim of this study was to investigate the clinical phenotype, imaging manifestations and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation. Clinical data, medical imaging data and gene test results of BRPS in infant patients were retrospectively analyzed, and related literature was summarized. Case presentation At the age of 8 months, brain MRI showed that the subarachnoid space of the forehead was widened, part of the sulci was deepened, and the corpus callosum was thin. The development quotient (DQ) was determined using the 0~6-year-old pediatric examination table of neuropsychological development at 6 months and 8 months. The DQ of both tests was less than 69. Whole-exome sequencing revealed a heterozygous frameshift mutation c.3493_3494deTG in exon 12 of the ASXL3 gene, resulting in the amino acid change p. (Cys1165Ter). No variation was present at this site in her parents. Sanger sequencing of family members validated this analysis, suggesting a de novo mutation. The de novo ASXL3 mutations generated stop codons and were predicted, in silico, to generate a truncated ASXL3. Conclusions The main clinical features of the patient included psychomotor development retardation, difficulty in feeding, hypotonia, and special facial features. MRI features showed that brain development lagged behind that of normal children. Genetic testing is helpful in the early diagnosis of BRPS.
- Subjects :
- 0301 basic medicine
China
Bainbridge–ropers syndrome
Developmental Disabilities
Case Report
Gene mutation
Bioinformatics
Frameshift mutation
03 medical and health sciences
symbols.namesake
Magnetic resonance imaging
0302 clinical medicine
medicine
Humans
Child
ASXL3 gene
Exome sequencing
Retrospective Studies
Genetic testing
Sanger sequencing
Psychomotor retardation
medicine.diagnostic_test
business.industry
lcsh:RJ1-570
Infant
lcsh:Pediatrics
medicine.disease
Hypotonia
Developmental disorder
Phenotype
030104 developmental biology
Whole-exome sequencing
030220 oncology & carcinogenesis
Mutation
Pediatrics, Perinatology and Child Health
symbols
Female
medicine.symptom
business
Transcription Factors
Subjects
Details
- ISSN :
- 14712431
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- BMC Pediatrics
- Accession number :
- edsair.doi.dedup.....a7f548e5ec82ed4caf6eda8feb1ee2e3