Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 31-34, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928355
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS).@*METHODS@#The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2).@*CONCLUSION@#The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Rothmund-Thomson
/
Família
/
RecQ Helicases
/
Sequenciamento do Exoma
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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