A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Journal of Genetic Medicine
;
: 13-16, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-715430
ABSTRACT
X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hemorragia Vítrea
/
Portador Sano
/
Agudeza Visual
/
Exones
/
Retinosquisis
/
Genes Ligados a X
/
Reacción en Cadena de la Polimerasa Multiplex
/
Asesoramiento Genético
/
Leucocitos
/
Madres
Tipo de estudio:
Estudio pronóstico
Límite:
Child, preschool
/
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2018
Tipo del documento:
Artículo
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