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Sökning: onr:"swepub:oai:lup.lub.lu.se:cecbeab6-431c-4ae1-bb0d-ca5b46690998" > Mutations in CEP78 ...

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Nikopoulos, Konstantinos, (författare)
University of Lausanne
Farinelli, Pietro, (författare)
University of Lausanne
Giangreco, Basilio, (författare)
University of Lausanne
visa fler...
Tsika, Chrysanthi, (författare)
University of Crete
Royer-Bertrand, Beryl, (författare)
University of Lausanne
Mbefo, Martial K, (författare)
Jules Gonin Ophthalmic Hospital
Bedoni, Nicola, (författare)
University of Lausanne
Kjellström, Ulrika, (författare)
Lunds universitet, Lund University, Medicinska fakulteten, Faculty of Medicine, Institutionen för kliniska vetenskaper, Lund, Department of Clinical Sciences, Lund, Sektion IV, Section IV, Oftalmologi, Lund, Ophthalmology, Lund, Skåne University Hospital
El Zaoui, Ikram, (författare)
University of Lausanne
Di Gioia, Silvio Alessandro, (författare)
University of Lausanne
Balzano, Sara, (författare)
University of Lausanne
Cisarova, Katarina (författare)
Messina, Andrea (författare)
Decembrini, Sarah (författare)
Plainis, Sotiris (författare)
Blazaki, Styliani V (författare)
Khan, Muhammad Imran (författare)
Micheal, Shazia (författare)
Boldt, Karsten (författare)
Ueffing, Marius (författare)
Moulin, Alexandre P (författare)
Cremers, Frans P M (författare)
Roepman, Ronald (författare)
Arsenijevic, Yvan (författare)
Tsilimbaris, Miltiadis K (författare)
Andréasson, Sten, (författare)
Lunds universitet, Lund University, Medicinska fakulteten, Faculty of Medicine, Institutionen för kliniska vetenskaper, Lund, Department of Clinical Sciences, Lund, Sektion IV, Section IV, Oftalmologi, Lund, Ophthalmology, Lund, Skåne University Hospital
Rivolta, Carlo (författare)
visa färre...
2016
Engelska 7 s.
Ingår i: American Journal of Human Genetics. - Cell Press. - 0002-9297. ; 99:3, s. 770-776
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency of central vision. After exome analysis of a cohort of individuals with CRD, we identified biallelic mutations in the orphan gene CEP78 in three subjects from two families: one from Greece and another from Sweden. The Greek subject, from the island of Crete, was homozygous for the c.499+1G>T (IVS3+1G>T) mutation in intron 3. The Swedish subjects, two siblings, were compound heterozygotes for the nearby mutation c.499+5G>A (IVS3+5G>A) and for the frameshift-causing variant c.633delC (p.Trp212Glyfs(∗)18). In addition to CRD, these three individuals had hearing loss or hearing deficit. Immunostaining highlighted the presence of CEP78 in the inner segments of retinal photoreceptors, predominantly of cones, and at the base of the primary cilium of fibroblasts. Interaction studies also showed that CEP78 binds to FAM161A, another ciliary protein associated with retinal degeneration. Finally, analysis of skin fibroblasts derived from affected individuals revealed abnormal ciliary morphology, as compared to that of control cells. Altogether, our data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oftalmologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Ophthalmology (hsv//eng)

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