Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 428-432, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928435
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.@*RESULTS@#The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.@*CONCLUSION@#The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transtorno Autístico
/
Anormalidades Múltiplas
/
Proteínas de Homeodomínio
/
Doenças Raras
/
Transtorno do Espectro Autista
/
Heterozigoto
/
Deficiência Intelectual
/
Mutação
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Guia de Prática Clínica
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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