Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.
Eye Sci
; 29(2): 104-7, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-26011961
ABSTRACT
Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Espasmos Infantis
/
Cegueira
/
Mapeamento Cromossômico
/
Cromossomos Humanos X
/
Mutação
/
Doenças do Sistema Nervoso
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Eye Sci
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2014
Tipo de documento:
Article