Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study

Vasiliki Chini, Danai Stambouli, Florina M ihaela Nedelea, George A lexandru Filipescu, Diana Mina, Marios Kambouris, Hatem El-Shantil

Research output: Chapter in Book/Report/Conference proceedingChapter

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.

Original languageEnglish
Title of host publicationEye science
Pages104-107
Number of pages4
Volume29
Edition2
Publication statusPublished - 1 Jun 2014
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Chini, V., Stambouli, D., Nedelea, F. M. I., Filipescu, G. A. L., Mina, D., Kambouris, M., & El-Shantil, H. (2014). Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. In Eye science (2 ed., Vol. 29, pp. 104-107)