Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

✍ Scribed by María Martinez-Gimeno; Miquel Maseras; Montserrat Baiget; Magdalena Beneito; Gillermo Antiñolo; Carmen Ayuso; Miguel Carballo

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 61 KB
• Volume: 17
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.1135

✦ Synopsis

Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far been mapped. However, mutations causing adRP have been identified only in four retina-specific genes: RHO (encoding rhodopsin) in approximately 20% of adRP families, peripherin/RDS (3-5% of adRP) and recently RP1 (Pierce et al 1999, Sulivan et al 1999) and NRL gene. Only one mutation in the NRL gene causing adRP has so far been reported (Bessant et al. 1999). Here we report a novel mutation Pro51Leu in an adRP Spanish family supporting that mutation in NRL is the cause of adRP. A second missense mutation Gly122Glu has been observed in a simplex RP patient that may represent a sporadic case of retinitis pigmentosa.