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High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.

Gaël Manes 1, * Tremeur Guillaumie 2 Werner L Vos 3 Aurore Devos 4 Isabelle Audo 5, 6 Christina Zeitz 6 Virginie Marquette 1, 2 Xavier Zanlonghi 7 Sabine Defoort-Dhellemmes 8 Bernard Puech 8 Saddek Mohand Said 5, 6 José-Alain Sahel 5, 6 Sylvie Odent 9 Hélène Dollfus 10 Josseline Kaplan 11 Jean-Louis Dufier 12 Guylène Le Meur 13 Michel Weber 13 Laurence Faivre 14 Francine Behar Cohen 12 Christophe Béroud 15 Marie-Christine Picot 16 Coralie Verdier 1 Audrey Sénéchal 1 Corinne Baudoin 2 Béatrice Bocquet 1, 2 John B Findlay 3 Isabelle Meunier 1, 2 Claire-Marie Dhaenens 4 Christian P Hamel 1, 2
Abstract : PURPOSE:To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report six novel mutations, to characterize the biochemical features of a recurrent novel mutation and to study the clinical features of adRP patients.DESIGN:Retrospective clinical and molecular genetic study.METHODS:Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot.RESULTS:We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1 to 0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families.CONCLUSIONS:The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases which could be underdiagnosed.
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Gaël Manes, Tremeur Guillaumie, Werner L Vos, Aurore Devos, Isabelle Audo, et al.. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.. Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2015, 159 (2), pp.302-314. ⟨10.1016/j.ajo.2014.10.033⟩. ⟨hal-01091447⟩

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