TY  - JOUR
AU  - Grubisa, Ivana
AU  - Janković, Milena
AU  - Nikolić, Nađa
AU  - Jakšić, Vesna Z.
AU  - Risimić, Dijana
AU  - Mavija, Milka
AU  - Stamenković, Miroslav R.
AU  - Zlatović, Mario
AU  - Milašin, Jelena
PY  - 2021
UR  - https://www.sciencedirect.com/science/article/pii/S0014483521001408
UR  - https://cherry.chem.bg.ac.rs/handle/123456789/4518
AB  - Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.1261T>A, p.Tyr421Asn in TEAD1, detected in a Serbian family from Bosnia diagnosed with SCRA. The newly discovered change occurred at the same position as the “Icelandic mutation” (c.1261T>C, p.Tyr421His). According to our findings, this position in the exon 13 of the TEAD1 gene, at base pair 94, should be considered as a mutation hotspot and a starting point for future genetic analyses of patients with SCRA diagnosis.
PB  - Elsevier
T2  - Experimental Eye Research
T2  - Experimental Eye ResearchExperimental Eye Research
T1  - Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy
VL  - 207
SP  - 108575
DO  - 10.1016/j.exer.2021.108575
ER  - 

@article{
author = "Grubisa, Ivana and Janković, Milena and Nikolić, Nađa and Jakšić, Vesna Z. and Risimić, Dijana and Mavija, Milka and Stamenković, Miroslav R. and Zlatović, Mario and Milašin, Jelena",
year = "2021",
abstract = "Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.1261T>A, p.Tyr421Asn in TEAD1, detected in a Serbian family from Bosnia diagnosed with SCRA. The newly discovered change occurred at the same position as the “Icelandic mutation” (c.1261T>C, p.Tyr421His). According to our findings, this position in the exon 13 of the TEAD1 gene, at base pair 94, should be considered as a mutation hotspot and a starting point for future genetic analyses of patients with SCRA diagnosis.",
publisher = "Elsevier",
journal = "Experimental Eye Research, Experimental Eye ResearchExperimental Eye Research",
title = "Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy",
volume = "207",
pages = "108575",
doi = "10.1016/j.exer.2021.108575"
}

Grubisa, I., Janković, M., Nikolić, N., Jakšić, V. Z., Risimić, D., Mavija, M., Stamenković, M. R., Zlatović, M.,& Milašin, J.. (2021). Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy. in Experimental Eye Research
Elsevier., 207, 108575.
https://doi.org/10.1016/j.exer.2021.108575

Grubisa I, Janković M, Nikolić N, Jakšić VZ, Risimić D, Mavija M, Stamenković MR, Zlatović M, Milašin J. Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy. in Experimental Eye Research. 2021;207:108575.
doi:10.1016/j.exer.2021.108575 .

Grubisa, Ivana, Janković, Milena, Nikolić, Nađa, Jakšić, Vesna Z., Risimić, Dijana, Mavija, Milka, Stamenković, Miroslav R., Zlatović, Mario, Milašin, Jelena, "Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy" in Experimental Eye Research, 207 (2021):108575,
https://doi.org/10.1016/j.exer.2021.108575 . .