MIR204 n.37C>T variant as a cause of chorioretinal dystrophy
variably associated with iris coloboma, early-onset cataracts
and congenital glaucoma

J 2023

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

JEDLICKOVA, Jana, Marie VAJTER, Tomáš BÁRTA, Graeme C M BLACK, Rahat PERVEEN et. al.

Základní údaje

Originální název

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

Autoři

JEDLICKOVA, Jana (203 Česká republika), Marie VAJTER (203 Česká republika), Tomáš BÁRTA (203 Česká republika, domácí), Graeme C M BLACK, Rahat PERVEEN, Jan MARES (203 Česká republika), Marek FICHTL (203 Česká republika), Bohdan KOUSAL (203 Česká republika), Lubica DUDAKOVA (203 Česká republika) a Petra LISKOVA (203 Česká republika, garant)

Vydání

Clinical Genetics, Hoboken, Wiley-Blackwell, 2023, 0009-9163

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.500 v roce 2022

Kód RIV

RIV/00216224:14110/23:00134392

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1111/cge.14391

UT WoS

001008363000001

Klíčová slova anglicky

albinism; chorioretinal dystrophy; coloboma; congenital glaucoma; MIR204; OCA2; premature cataract

Štítky

14110517, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 2. 4. 2024 08:01, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

GA21-08182S, projekt VaV

Název: Retinální organoidy: Zkoumání účinků fotostimulace na lidskou sítnici

Investor: Grantová agentura ČR, Retinal Organoids: Exploring the Effects of Photo-Stimulation on Human Retina

825575, interní kód MU

Název: European Joint Programme on Rare Diseases (Akronym: EJP RD)

Investor: Evropská unie, European Joint Programme on Rare Diseases, Health, demographic change and wellbeing (Societal Challenges)

Citovat

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.

@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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