期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 67, 期 4, 页码 1000-1003出版社
UNIV CHICAGO PRESS
DOI: 10.1086/303091
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资金
- NEI NIH HHS [R01 EY007961, R01 EY007142, R01 EY006094, F31 EY007003, P30 EY007003, EY07142, EY07961, EY07003] Funding Source: Medline
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was assigned to Xp22, by linkage analysis of a single pedigree with X-linked dominant cone-rod degeneration. After clinical reevaluation of a female in this pedigree identified her as affected, we remapped the disease to a 19.5-cM interval (DXS1219-DXS993) at Xp11.4-p21.1. This new interval overlapped both RP3 (RPGR) and COD1. Sequencing of the previously published exons of RPGR revealed no mutations, but a de novo insertion was detected in the new RPGR exon, ORF15. The identification of an RPGR mutation in a family with a severe form of cone and rod degeneration suggests that RPGR mutations may encompass a broader phenotypic spectrum than has previously been recognized in typical retinitis pigmentosa.
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