A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Journal of Genetic Medicine
; : 13-16, 2018.
Article
Dans En
| WPRIM
| ID: wpr-715430
Responsable en Bibliothèque :
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Hémorragie du vitré
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État de porteur sain
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Acuité visuelle
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Exons
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Rétinoschisis
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Gènes liés au chromosome X
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Réaction de polymérisation en chaine multiplex
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Conseil génétique
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Leucocytes
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Mères
Type d'étude:
Prognostic_studies
Limites du sujet:
Child, preschool
/
Humans
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2018
Type:
Article