PURPOSE: To map the gene responsible for causing a macular degeneration in a Texan family that appears clinically similar to the North Carolina macular dystrophy (MCDR1) phenotype. METHODS: A single family in Texas had all the typical clinical features of the North Carolina macular dystrophy phenotype. Of 23 family members examined, 10 were affected. Blood was collected from all 23 members and fundus photographs were obtained on those affected. A detailed family history consisting of nine generations was obtained. Genotyping and likelihood analysis was performed using the closest linked MCDR1 markers. RESULTS: The genealogic data showed no relation with the original North Carolina macular dystrophy pedigree. The dinucleotide repeat marker D6S283 yielded the highest 2-point LOD score with a Zmax = 4.1 at theta = 0. The peak LOD score generated from multipoint analysis was 6.0. CONCLUSIONS: The linkage results indicate that the macular degeneration in this Texan family is due to a mutation in the same genomic region as that causing North Carolina macular dystrophy. Furthermore, haplotype analysis suggests that the original North Carolina family and the Texan family have the same mutation and a common founder.
PURPOSE: To map the gene responsible for causing a macular degeneration in a Texan family that appears clinically similar to the North Carolina macular dystrophy (MCDR1) phenotype. METHODS: A single family in Texas had all the typical clinical features of the North Carolina macular dystrophy phenotype. Of 23 family members examined, 10 were affected. Blood was collected from all 23 members and fundus photographs were obtained on those affected. A detailed family history consisting of nine generations was obtained. Genotyping and likelihood analysis was performed using the closest linked MCDR1 markers. RESULTS: The genealogic data showed no relation with the original North Carolina macular dystrophy pedigree. The dinucleotide repeat marker D6S283 yielded the highest 2-point LOD score with a Zmax = 4.1 at theta = 0. The peak LOD score generated from multipoint analysis was 6.0. CONCLUSIONS: The linkage results indicate that the macular degeneration in this Texan family is due to a mutation in the same genomic region as that causing North Carolina macular dystrophy. Furthermore, haplotype analysis suggests that the original North Carolina family and the Texan family have the same mutation and a common founder.
Authors: Zhenglin Yang; Zongzhong Tong; Louis J Chorich; Erik Pearson; Xian Yang; Anthony Moore; David M Hunt; Kang Zhang Journal: Vision Res Date: 2007-10-31 Impact factor: 1.886
Authors: Kent W Small; Adam P DeLuca; S Scott Whitmore; Thomas Rosenberg; Rosemary Silva-Garcia; Nitin Udar; Bernard Puech; Charles A Garcia; Thomas A Rice; Gerald A Fishman; Elise Héon; James C Folk; Luan M Streb; Christine M Haas; Luke A Wiley; Todd E Scheetz; John H Fingert; Robert F Mullins; Budd A Tucker; Edwin M Stone Journal: Ophthalmology Date: 2015-10-24 Impact factor: 12.079
Authors: Sara J Bowne; Lori S Sullivan; Dianna K Wheaton; Kirsten G Locke; Kaylie D Jones; Daniel C Koboldt; Robert S Fulton; Richard K Wilson; Susan H Blanton; David G Birch; Stephen P Daiger Journal: Mol Vis Date: 2016-10-17 Impact factor: 2.367
Authors: Valentina Cipriani; Raquel S Silva; Gavin Arno; Nikolas Pontikos; Ambreen Kalhoro; Sandra Valeina; Inna Inashkina; Mareta Audere; Katrina Rutka; Bernard Puech; Michel Michaelides; Veronica van Heyningen; Baiba Lace; Andrew R Webster; Anthony T Moore Journal: Sci Rep Date: 2017-08-08 Impact factor: 4.379
Authors: Kent W Small; Stijn Van de Sompele; Karen Nuytemans; Andrea Vincent; Ozge Ozalp Yuregir; Emine Ciloglu; Cahfer Sariyildiz; Toon Rosseel; Jessica Avetisjan; Nitin Udar; Jeffery M Vance; Margaret A Pericak-Vance; Elfride De Baere; Fadi S Shaya Journal: Mol Vis Date: 2021-09-01 Impact factor: 2.367