North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

Autor:	Todd E. Scheetz, Charles A. Garcia, S. Scott Whitmore, Elise Héon, Edwin M. Stone, Luke A Wiley, Kent W. Small, Budd A. Tucker, Nitin Udar, Bernard Puech, Thomas Rosenberg, Robert F. Mullins, John H. Fingert, Gerald A. Fishman, James C. Folk, Luan M. Streb, Christine M. Haas, Adam P. DeLuca, Rosemary Silva-Garcia, Thomas A. Rice
Rok vydání:	2016
Předmět:	0301 basic medicine Adult Male Adolescent Fundus Oculi Genetic Linkage Locus (genetics) Biology DNA sequencing 03 medical and health sciences symbols.namesake Young Adult Genetic linkage Gene duplication Humans Family Allele Fluorescein Angiography Child Eye Proteins Gene Genetics Sanger sequencing Corneal Dystrophies Hereditary Polymorphism Genetic Reverse Transcriptase Polymerase Chain Reaction Haplotype Immunohistochemistry Pedigree Ophthalmology 030104 developmental biology Phenotype Child Preschool symbols RNA Chromosomes Human Pair 6 Female Tomography Optical Coherence
Zdroj:	Ophthalmology. 123(1):9-18
ISSN:	0161-6420
DOI:	10.1016/j.ophtha.2015.10.006
Popis:	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
Databáze:	OpenAIRE
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