X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
Publication/Presentation Date
10-1-2006
Abstract
PURPOSE: To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis.
METHODS: Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up.
RESULTS: We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males resulting in an amino acid substitution of methionine to leucine (Met1Leu), therefore abolishing the translation initiation Met codon.
CONCLUSION: Identification of the disease-causing mutation in this family with long-term follow-up allows for earlier and more accurate identification of individuals at risk for this inherited progressive macular degeneration, provides for more accurate genetic counseling, and contributes to our understanding of the pathophysiology of this disorder.
Volume
26
Issue
8
First Page
940
Last Page
946
ISSN
0275-004X
Published In/Presented At
Kim, D. Y., Neely, K. A., Sassani, J. W., Vrabec, T. R., Tantri, A., Frost, A., & Donoso, L. A. (2006). X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family. Retina (Philadelphia, Pa.), 26(8), 940–946. https://doi.org/10.1097/01.iae.0000224321.93502.a3
Disciplines
Medicine and Health Sciences
PubMedID
17031297
Department(s)
Department of Medicine
Document Type
Article