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Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains
Authors:Maria Giuseppina Miano,Francesco Testa,Francesco Filippini,Mariajos   Trujillo,Ivan Conte,Carmela Lanzara,Jos   Maria Mill  n,Carmelilia De Bernardo,Barbara Grammatico,Massimo Mangino,Isabella Torrente,Romeo Carrozzo,Francesca Simonelli,Ernesto Rinaldi,Valerio Ventruto,Michele D&#x  Urso,Carmen Ayuso,Alfredo Ciccodicola
Affiliation:Maria Giuseppina Miano,Francesco Testa,Francesco Filippini,Mariajosè Trujillo,Ivan Conte,Carmela Lanzara,Josè Maria Millán,Carmelilia De Bernardo,Barbara Grammatico,Massimo Mangino,Isabella Torrente,Romeo Carrozzo,Francesca Simonelli,Ernesto Rinaldi,Valerio Ventruto,Michele D’Urso,Carmen Ayuso,Alfredo Ciccodicola
Abstract:X‐linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly significative difference between RP3 and RP2 phenotypes. In the attempt to assess the degree of involvement of the RP2 gene, we performed a complete mutation analysis in a cohort of patients and we identified five novel mutations in five different XLRP families. These mutations include three missense mutations, a splice site mutation, and a single base insertion, which, because of frameshift, anticipates a stop codon. Four mutations fall in RP2 exon 2 and one in exon 3. Evidence that such mutations are different from the 21 RP2 mutations described thus far suggests that a high mutation rate occurs at the RP2 locus, and that most mutations arise independently, without a founder effect. Our mutation analysis confirms the percentage of RP2 mutations detected so far in populations of different ethnic origin. In addition to novel mutations, we report here that a deeper sequence analysis of the RP2 product predicts, in addition to cofactor C homology domain, further putative functional domains, and that some novel mutations identify RP2 amino acid residues which are evolutionary conserved, hence possibly crucial to the RP2 function. Hum Mutat 18:109–119, 2001. © 2001 Wiley‐Liss, Inc.
Keywords:retinal disease  retinitis pigmentosa 2, X‐linked  RP2  XLRP  mutation analysis  MAP domain  NM23 domain
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