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Article

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Human molecular genetics - 1 Oct 2014

Yu Yi, Triebwasser Michael P, Wong Edwin K S, Schramm Elizabeth C, Thomas Brett, Reynolds Robyn, Mardis Elaine R, Atkinson John P, Daly Mark, Raychaudhuri Soumya, Kavanagh David, Seddon Johanna M

Abstract excerpt

We sequenced the whole exome of 35 cases and 7 controls from 9 age-related macular degeneration (AMD) families in whom known common genetic risk alleles could not explain their high disease burden and/or their early-onset advanced disease. Two families harbored novel rare mutations in CFH (R53C and D90G). R53C segregates perfectly with AMD in 11 cases (heterozygous) and 1 elderly control (reference allele) (LOD =...

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Identifiers

PMID: 24847005
DOI: 10.1093/hmg/ddu226
PMCID: PMC4159152

Genes

CFH

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