Article
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
JAMA ophthalmology - 1 Aug 2014
Siemiatkowska Anna M, Schuurs-Hoeijmakers Janneke H M, Bosch Danielle G M, Boonstra F Nienke, Riemslag Frans C C, Ruiter Mariken, de Vries Bert B A, den Hollander Anneke I, Collin Rob W J, Cremers Frans P M
Abstract excerpt
IMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy. The most prevalent NMNAT1 variant was p.Glu257Lys, which was observed in 38 of 106 alleles (35.8%). On the basis of functional assays, it was deemed a severe variant. OBSERVATIONS: The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber...
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