Souied E, Segues B, Ghazi I, Rozet J M, Chatelin S, Gerber S, Perrault I, Michel-Awad A, Briard M L, Plessis G, Dufier J L, Munnich A, Kaplan J
Unité de Recherches sur les Handicaps Génétiques de 1'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
J Med Genet. 1997 Oct;34(10):793-7. doi: 10.1136/jmg.34.10.793.
Retinitis pigmentosa (RP) is a group of progressive hereditary disorders of the retina in which various modes of inheritance have been described. Here, we report on X linked RP in nine families with constant and severe expression in carrier females. In our series, however, the phenotype was milder and delayed in carrier females compared to hemizygous males. This form of X linked RP could be regarded therefore as partially dominant. The disease gene maps to chromosome Xp2.1 in the genetic interval encompassing the RP3 locus (Zmax=13.71 at the DXS1100 locus). Single strand conformation polymorphism and direct sequence analysis of the retinitis pigmentosa GTPase regulator (RPGR) gene, which accounts for RP3, failed to detect any mutation in our families. Future advances in the identification of X linked RP genes will hopefully help to elucidate the molecular basis of this X linked dominant RP.
视网膜色素变性（RP）是一组视网膜进行性遗传性疾病，已描述了多种遗传方式。在此，我们报告9个家族中的X连锁RP，其携带者女性表现为持续且严重的症状。然而，在我们的系列研究中，与半合子男性相比，携带者女性的表型较轻且发病较晚。因此，这种X连锁RP形式可被视为部分显性。该疾病基因定位于X染色体p2.1，在包含RP3位点的遗传区间内（在DXS1100位点处Zmax = 13.71）。对导致RP3的视网膜色素变性GTP酶调节蛋白（RPGR）基因进行单链构象多态性和直接序列分析，未能在我们的家族中检测到任何突变。X连锁RP基因鉴定方面的未来进展有望有助于阐明这种X连锁显性RP的分子基础。
