Journal article
Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study
Eye science, Vol.29(2), p.104
06/2014
PMID: 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.
Details
- Title: Subtitle
- Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study
- Creators
- Vasiliki ChiniDanai StambouliFlorina Mihaela NedeleaGeorge Alexandru FilipescuDiana MinaMarios KambourisHatem El-Shantil
- Resource Type
- Journal article
- Publication Details
- Eye science, Vol.29(2), p.104
- PMID
- 26011961
- NLM abbreviation
- Eye Sci
- ISSN
- 3005-9984
- eISSN
- 3005-9992
- Language
- English
- Date published
- 06/2014
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093492902771
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