North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
- Small, Kent W.
- DeLuca, Adam P.
- Whitmore, S. Scott
- Rosenberg, Thomas
- Silva-Garcia, Rosemary
- Udar, Nitin
- Puech, Bernard
- Garcia, Charles A.
- Rice, Thomas A.
- Fishman, Gerald A.
- Héon, Elise
- Folk, James C.
- Streb, Luan M.
- Haas, Christine M.
- Wiley, Luke A.
- Scheetz, Todd E.
- Fingert, John H.
- Mullins, Robert F.
- Tucker, Budd A.
- Stone, Edwin M.
DOIAbstract
PurposeTo identify specific mutations causing North Carolina macular dystrophy (NCMD).DesignWhole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells.ParticipantsA total of 141 members of 12 families with NCMD and 261 unrelated control individuals.MethodsGenome sequencing was performed on 8 affected individuals from 3 families affected with chromosome 6–linked NCMD (MCDR1) and 2 individuals affected with chromosome 5–linked NCMD (MCDR3). Variants observed in the MCDR1 locus with frequencies <1% in published databases were confirmed using Sanger sequencing. Confirmed variants absent from all published databases were sought in 8 additional MCDR1 families an...
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