Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

M. J. Simovich, B. Miller, H. Ezzeldin, B. T. Kirkland, G. McLeod, C. Fulmer, Jeremy Nathans, S. G. Jacobson, S. J. Pittler

Research output: Contribution to journalArticle

Abstract

Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for approximately 10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001.

Original languageEnglish (US)
Pages (from-to)164
Number of pages1
JournalHuman Mutation
Volume18
Issue number2
StatePublished - Aug 2001
Externally publishedYes

Fingerprint

Leber Congenital Amaurosis
Mutation
Retinal Dystrophies
Genes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Retinitis Pigmentosa
Retinal Pigments
Regeneration

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Simovich, M. J., Miller, B., Ezzeldin, H., Kirkland, B. T., McLeod, G., Fulmer, C., ... Pittler, S. J. (2001). Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Human Mutation, 18(2), 164.

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. / Simovich, M. J.; Miller, B.; Ezzeldin, H.; Kirkland, B. T.; McLeod, G.; Fulmer, C.; Nathans, Jeremy; Jacobson, S. G.; Pittler, S. J.

In: Human Mutation, Vol. 18, No. 2, 08.2001, p. 164.

Research output: Contribution to journalArticle

Simovich, MJ, Miller, B, Ezzeldin, H, Kirkland, BT, McLeod, G, Fulmer, C, Nathans, J, Jacobson, SG & Pittler, SJ 2001, 'Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.', Human Mutation, vol. 18, no. 2, pp. 164.
Simovich MJ, Miller B, Ezzeldin H, Kirkland BT, McLeod G, Fulmer C et al. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Human Mutation. 2001 Aug;18(2):164.
Simovich, M. J. ; Miller, B. ; Ezzeldin, H. ; Kirkland, B. T. ; McLeod, G. ; Fulmer, C. ; Nathans, Jeremy ; Jacobson, S. G. ; Pittler, S. J. / Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. In: Human Mutation. 2001 ; Vol. 18, No. 2. pp. 164.
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