Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 25-27, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-781302
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a pedigree affected with Norrie disease.@*METHODS@#Four individuals from the core family of the proband were subjected to whole exome sequencing in order to identify the pathological variant. Sanger sequencing was used to verify the finding among 7 additional members from the pedigree.@*RESULTS@#The proband and other 3 male patients have all carried a hemizygote c.361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers. The same variant was not detected among unaffected males. Above results conformed to a X-linked recessive pattern of inheritance.@*CONCLUSION@#The missense variant c.361C>T of the NDP gene probably underlies the Norrie disease in this pedigree.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Degeneración Retiniana
/
Espasmos Infantiles
/
Ceguera
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Proteínas del Ojo
/
Genética
/
Proteínas del Tejido Nervioso
/
Enfermedades del Sistema Nervioso
Tipo de estudio:
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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