JEDLICKOVA, Jana, Marie VAJTER, Tomáš BÁRTA, Graeme C M BLACK, Rahat PERVEEN, Jan MARES, Marek FICHTL, Bohdan KOUSAL, Lubica DUDAKOVA and 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, vol. 104, No 4, p. 418-426. ISSN 0009-9163. Available from: 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 and 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, vol.~104, No~4, p.~418-426. ISSN~0009-9163. Available from: https://dx.doi.org/10.1111/cge.14391.
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