Abstract
Purpose
To detect crystallin gene mutations in Turkish children with congenital cataracts.
Methods
The present study included 56 children (38 males and 18 females) who were diagnosed with congenital cataract in our ophthalmology clinic. The patients’ blood samples were collected and sent to the medical genetics laboratory. The samples were assessed using the sequence analysis method, which covered all exons of CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD.
Results
In total, 56 patients with congenital cataracts were included in the present study. Of these, 68% were male and 32% were female. The age range of the patients was 2 months to 5 years. The mean age of onset was 21.08 ± 15.15 months. All the patients had bilateral congenital cataracts. The female-to-male ratio was 1:2.1. Mutation analysis was performed to detect possible mutations in CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD. Of the four mutations detected, one was novel (c.383A > T in CRYGD) and three were known (c.592C > T in CRYBB2, c.164A > G in CRYGC and c.592C > T in CRYBB2). Two of these three mutations were detected in the same gene (CRYBB2). Crystallin gene mutations were detected in 7% of patients with congenital cataracts (four out of 56 patients) in the present study.
Conclusions
We think that mutations in crystallin genes are responsible for 7% of congenital cataract cases in our country. The detection of these mutations may help in the molecular diagnosis of congenital cataracts.
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Data availability
The authors declare that materials described in the manuscript, including all relevant raw data, will be freely available to any scientist wishing to use them for noncommercial purposes, without breaching participant confidentiality. Moreover, the authors ensure that their datasets are presented in the main manuscript.
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All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by MK, AAD, SE, SA, ST and UK. Genetic analysis was performed by ST. The first draft of the manuscript was written by MK and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Ethics Committee of the Medical University of Dicle University, Diyarbakır, Turkey (decision date: 5 December 2019, No. 281).
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Karahan, M., Demirtaş, A.A., Erdem, S. et al. Crystalline gene mutations in Turkish children with congenital cataracts. Int Ophthalmol 41, 2847–2852 (2021). https://doi.org/10.1007/s10792-021-01843-9
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DOI: https://doi.org/10.1007/s10792-021-01843-9