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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s005950300065

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1432-1203

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Achromatopsia the Emphasis Type="Italic"CNGB3/

Authors: Wojciech Wiszniewski Richard Alan Lewis James R Lupski
Publish Date: 2007/01/31
Volume: 121, Issue: 3-4, Pages: 433-439
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Abstract

Achromatopsia ACHM or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder It is characterized by a lack of color discrimination poor visual acuity photodysphoria pendular infantile nystagmus and abnormal photopic electroretinographic ERG recordings with preservation of rodmediated function Mutations in three known genes are causative including genes for the α and β subunits of the cyclic nucleotidegated cation channel CNGA3 and CNGB3 respectively and cone photoreceptor transducin—GNAT2 We investigated the prevalence of mutations in achromatopsiacausing genes in a cohort of 16 families with both clinical and electrophysiologic evidence consistent with autosomal recessive transmission including one subject with achromatopsia and maternal isodisomy for chromosome 14 The most frequent mutation pT383fsX in CNGB3 accounted for 75 18/24 of diseaseassociated alleles intragenic SNPs in unrelated patients revealed transmission of a common haplotype consistent with a founder effect Homozygous pT383fsX mutation in CNGB3 that maps to chromosome 8 was detected in a patient with achromatopsia and systemic features associated with uniparental disomy UPD of chromosome 14 Two novel variants pR223G and pA621E were found in CNGA3 We conclude that CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia Furthermore the CNGB3 mutation pT383fsX is a predominant mutation results from a founder effect and is responsible for the ACHM in the original clinical report of UPD 14We thank all participating families and their attending physicians for their willing and continued participation in these studies This study was supported in part by the National Eye Institute NIH grants EY13255 to JRL RAL is a Senior Scientific Investigator for Research to Prevent Blindness New York whose unrestricted funds supported part of this research

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