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.

Basic information

Original name

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

Authors

JEDLICKOVA, Jana (203 Czech Republic), Marie VAJTER (203 Czech Republic), Tomáš BÁRTA (203 Czech Republic, belonging to the institution), Graeme C M BLACK, Rahat PERVEEN, Jan MARES (203 Czech Republic), Marek FICHTL (203 Czech Republic), Bohdan KOUSAL (203 Czech Republic), Lubica DUDAKOVA (203 Czech Republic) and Petra LISKOVA (203 Czech Republic, guarantor)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.500 in 2022

RIV identification code

RIV/00216224:14110/23:00134392

Organization unit

Faculty of Medicine

DOI

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

UT WoS

001008363000001

Keywords in English

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

Abstract

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.

Links

GA21-08182S, research and development project

Name: Retinální organoidy: Zkoumání účinků fotostimulace na lidskou sítnici

Investor: Czech Science Foundation

825575, interní kód MU

Name: European Joint Programme on Rare Diseases (Acronym: EJP RD)

Investor: European Union, 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 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.

@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.

Detailed Information on Publication Record