Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy
Само за регистроване кориснике
2021
Аутори
Grubisa, IvanaJanković, Milena
Nikolić, Nađa
Jakšić, Vesna Z.
Risimić, Dijana
Mavija, Milka
Stamenković, Miroslav R.
Zlatović, Mario
Milašin, Jelena
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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.
Кључне речи:
Helicoidal peripapillary chorioretinal degeneration / novel variant / Sveinsson's chorioretinal atrophyИзвор:
Experimental Eye Research, 2021, 207, 108575-Издавач:
- Elsevier
Финансирање / пројекти:
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200129 (Универзитет у Београду, Стоматолошки факултет) (RS-MESTD-inst-2020-200129)
DOI: 10.1016/j.exer.2021.108575
ISSN: 0014-4835
WoS: 000660574400005
Scopus: 2-s2.0-85104591805
URI
https://www.sciencedirect.com/science/article/pii/S0014483521001408https://cherry.chem.bg.ac.rs/handle/123456789/4518
Колекције
Институција/група
Hemijski fakultet / Faculty of ChemistryTY - 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 . .