Genetic analysis of two children patients affected with CHARGE syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 244-247, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-687968
ABSTRACT
<p><b>OBJECTIVE</b>To analyze two Chinese pediatric patients with multiple malformations and growth and development delay.</p><p><b>METHODS</b>Both patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing.</p><p><b>RESULTS</b>High-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c.7957C>T, p.Arg2653*), while patient 2 carried a nonsense mutation of exon 2 (c.718C>T, p.Gln240*). Sanger sequencing confirmed the above mutations in both patients, while their parents were of wild-type for the corresponding sites, indicating that the two mutations have happened de novo.</p><p><b>CONCLUSION</b>Two patients were diagnosed with CHARGE syndrome by high-throughput sequencing.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pruebas Genéticas
/
ADN Helicasas
/
Proteínas de Unión al ADN
/
Síndrome CHARGE
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
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