Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report
| Autor: | Yena Che, Bin Guo, Weiwei Zhu, Bingjuan Han, Lei Wang, Linfeng Yang, Lingfei Guo |
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| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | BMC Pediatrics BMC Pediatrics, Vol 20, Iss 1, Pp 1-8 (2020) |
| ISSN: | 1471-2431 |
| DOI: | 10.1186/s12887-020-02027-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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