Mapping of a novel locus for achromatopsia (<i>ACHM4</i>) to 1p and identification of a germline mutation in the α subunit of cone transducin (<i>GNAT2</i>)

Abstract excerpt

OBJECTIVE: To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis. DESIGN AND METHODS: A large consanguineous Pakistani family containing six subjects with autosomal recessive complete achromatopsia was ascertained. After excluding linkage to the two known achromatopsia genes (CNGA3 and CNGB3), a genome wide linkage screen was undertaken. RESULTS:...

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