title: Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.
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.
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Chini
authors.forename: Danai
authors.initials: D
authors.lastname: Stambouli
authors.forename: Florina Mihaela
authors.initials: FM
authors.lastname: Nedelea
authors.forename: George Alexandru
authors.initials: GA
authors.lastname: Filipescu
authors.forename: Diana
authors.initials: D
authors.lastname: Mina
authors.forename: Marios
authors.initials: M
authors.lastname: Kambouris
authors.forename: Hatem
authors.initials: H
authors.lastname: El-Shantil
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005260:Female; D005817:Genetic Counseling; D040181:Genetic Diseases, X-Linked; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*