Clinical features and genetic analysis of two children with Williams-Beuren syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 828-832, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-981830
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome (WBS).@*METHODS@#Two children who had presented at the Department of Pediatrics, General Hospital of Ningxia Medical University respectively on January 26 and March 18, 2021 were selected as the study subjects. Clinical data and results of genetic testing of the two patients were analyzed.@*RESULTS@#Both children had featured developmental delay, characteristic facies and cardiovascular malformation. Child 1 also had subclinical hypothyroidism, whilst child 2 had occurrence of epilepsy. Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region, whilst child 2 has a 1.53 Mb deletion in the same region, in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.158G>A and c.12181A>G variants were rated as variants of unknown significance (PM1+PM2_Supporting+PP2+PP3;PM2_Supporting).@*CONCLUSION@#Both children had characteristic features of WBS, for which deletions of the 7q11.23 region may be accountable. For children manifesting developmental delay, facial dysmorphism and cardiovascular malformations, the diagnosis of WBS should be suspected, and genetic testing should be recommended to confirm the diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 7
/
Testes Genéticos
/
Deleção Cromossômica
/
Síndrome de Williams
/
Fácies
/
Epilepsia
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
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