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Article10.1002/(sici)1098-1004(1998)12:1<70::aid-humu13>3.0.co;2-g

Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

Milena Cau,Antonio Cao,Daniela Loi,Alberto Puddu,Francesco Muntoni,Anna Mateddu+1 more-1998-01-01-Human Mutation
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TL;DRAbstract

Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.

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Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor disorders a study of RDS-peripherin gene was performed. We found three different unreported mutations 689delT, 857del17, corresponding to two macular dystrophy families and G208D in a retinitis pigmentosa (RP) family giving us a proportion of about 20% of RDS mutations in autosomal dominant Spanish macular dystrophies and 3% in ADRP.

Keywords

BiologyPeripherinRetinitis pigmentosaGeneticsGeneMutationMacular dystrophy

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