Clinical features and genetic analysis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1194-1198, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-922022
ABSTRACT
OBJECTIVE@#To analyze the clinical features and genetic basis of three children with mental retardation, language impairment and autistic features due to de novo variants of FOXP1 gene.@*METHODS@#Clinical data of the children were collected.Trio-whole exome sequencing was carried out for the children and their parents. Pathogenicity of the variants was analyzed through bioinformatics prediction.@*RESULTS@#All of the children had various degrees of mental retardation in conjunct with language deficit, global developmental delay, abnormal behavior and peculiar facial features, among whom two also developed autism spectrum disorders. The results of genetic testing showed that all three children harbored de novo variants of the FOXP1 gene, namely c.613_c.614delCTinsTA, c.1248delC and c.1393A>G. Two of these were frameshift variants and one was missense variant, which were all rated as pathogenic based on the guidelines of the American College of Medical Genetics (ACMG). Database search suggested that c.613_c.614delCTinsTA and c.1248delC were unreported previously.@*CONCLUSION@#For the three children from unrelated families with mental retardation in conjunct with language deficit, global growth delay, abnormal behavior and peculiar facial features, the c.613_ c. 614delCTinsTA, c.1248delC and c.1393A>G variants of the FOXP1 gene may be the pathogenic factors. Above cases have further expanded the genotype-phenotype profile of FOXP1 deficiency syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteínas Represoras
/
Trastorno Autístico
/
Pruebas Genéticas
/
Factores de Transcripción Forkhead
/
Secuenciación del Exoma
/
Trastornos del Desarrollo del Lenguaje
/
Discapacidad Intelectual
Tipo de estudio:
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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