A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Journal of Genetic Medicine
;
: 13-16, 2018.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hemorragia Vítrea
/
Portador Sadio
/
Acuidade Visual
/
Éxons
/
Retinosquise
/
Genes Ligados ao Cromossomo X
/
Reação em Cadeia da Polimerase Multiplex
/
Aconselhamento Genético
/
Leucócitos
/
Mães
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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