Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 462-464, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771990
ABSTRACT
OBJECTIVE@#To detect mutation of NDP gene in a pedigree affected with Norrie disease.@*METHODS@#Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.@*RESULTS@#Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.@*CONCLUSION@#The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Degeneración Retiniana
/
Espasmos Infantiles
/
Ceguera
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Proteínas del Ojo
/
Proteínas del Tejido Nervioso
/
Enfermedades del Sistema Nervioso
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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