| JEDLICKOVA, Jana, Marie VAJTER, Tomáš BÁRTA, Graeme C M BLACK, Rahat PERVEEN, Jan MARES, Marek FICHTL, Bohdan KOUSAL, Lubica DUDAKOVA a Petra LISKOVA. MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma. Clinical Genetics. Hoboken: Wiley-Blackwell, 2023, roč. 104, č. 4, s. 418-426. ISSN 0009-9163. Dostupné z: https://dx.doi.org/10.1111/cge.14391. |
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@article{2367151,
author = {Jedlickova, Jana and Vajter, Marie and Bárta, Tomáš and Black, Graeme C M and Perveen, Rahat and Mares, Jan and Fichtl, Marek and Kousal, Bohdan and Dudakova, Lubica and Liskova, Petra},
article_location = {Hoboken},
article_number = {4},
doi = {http://dx.doi.org/10.1111/cge.14391},
keywords = {albinism; chorioretinal dystrophy; coloboma; congenital glaucoma; MIR204; OCA2; premature cataract},
language = {eng},
issn = {0009-9163},
journal = {Clinical Genetics},
title = {MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma},
url = {https://onlinelibrary.wiley.com/doi/10.1111/cge.14391},
volume = {104},
year = {2023}
}
TY - JOUR
ID - 2367151
AU - Jedlickova, Jana - Vajter, Marie - Bárta, Tomáš - Black, Graeme C M - Perveen, Rahat - Mares, Jan - Fichtl, Marek - Kousal, Bohdan - Dudakova, Lubica - Liskova, Petra
PY - 2023
TI - MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
JF - Clinical Genetics
VL - 104
IS - 4
SP - 418-426
EP - 418-426
PB - Wiley-Blackwell
SN - 00099163
KW - albinism
KW - chorioretinal dystrophy
KW - coloboma
KW - congenital glaucoma
KW - MIR204
KW - OCA2
KW - premature cataract
UR - https://onlinelibrary.wiley.com/doi/10.1111/cge.14391
N2 - Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.
ER -
JEDLICKOVA, Jana, Marie VAJTER, Tomáš BÁRTA, Graeme C M BLACK, Rahat PERVEEN, Jan MARES, Marek FICHTL, Bohdan KOUSAL, Lubica DUDAKOVA a Petra LISKOVA. MIR204 n.37C\&{}gt;T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma. \textit{Clinical Genetics}. Hoboken: Wiley-Blackwell, 2023, roč.~104, č.~4, s.~418-426. ISSN~0009-9163. Dostupné z: https://dx.doi.org/10.1111/cge.14391.
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