X-linked retinoschisis

Novel mutation in the initiation codon of the xlrs1 gene in a large family

David Y. Kim, Kimberly Neely, Joseph Sassani, Tamara R. Vrabec, Avinash Tantri, Arcilee Frost, Larry A. Donoso

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)940-946
Number of pages7
JournalRetina
Volume26
Issue number8
DOIs
StatePublished - Oct 1 2006

Fingerprint

Retinoschisis
Initiator Codon
Point Mutation
Mutation
Genes
Genetic Counseling
Macular Degeneration
Amino Acid Substitution
Leucine
Methionine

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Kim, David Y. ; Neely, Kimberly ; Sassani, Joseph ; Vrabec, Tamara R. ; Tantri, Avinash ; Frost, Arcilee ; Donoso, Larry A. / X-linked retinoschisis : Novel mutation in the initiation codon of the xlrs1 gene in a large family. In: Retina. 2006 ; Vol. 26, No. 8. pp. 940-946.
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X-linked retinoschisis : Novel mutation in the initiation codon of the xlrs1 gene in a large family. / Kim, David Y.; Neely, Kimberly; Sassani, Joseph; Vrabec, Tamara R.; Tantri, Avinash; Frost, Arcilee; Donoso, Larry A.

In: Retina, Vol. 26, No. 8, 01.10.2006, p. 940-946.

Research output: Contribution to journalArticle

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AU - Kim, David Y.

AU - Neely, Kimberly

AU - Sassani, Joseph

AU - Vrabec, Tamara R.

AU - Tantri, Avinash

AU - Frost, Arcilee

AU - Donoso, Larry A.

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N2 - 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.

AB - 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.

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