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Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

Balkan Journal of Medical Genetics
Volume 25 (2022): Issue 1 (June 2022)
By:
Open Access
|Mar 2023

Figures & Tables

Figure 1

Mutation analysis of GJB2 gene region associated with KID in two unrelated female patients. (A) Patient 1, thickening and keratinization of eyelid margins, lash loss, cornea showing a rim of abnormal epithelium with superficial neovascularization peripheral, significant stromal scarring with extensive neovascularization. (A1) Sequencing chromatograms showing the GJB2 heterozygous transition c.148G>A in first patient. (A2) Unaffected mother of patient 1. (B) Patient 2, thickening and keratinization of eyelid margins, lash loss, diffuse opacification of cornea and loss of conjunctival luster. (B1) Sequencing chromatograms showing the same c.148G>A heterozygous transition in patient 2. (B2) Unaffected mother of patient 2. (B3) Sister who is carrying c.35delG heterozygous mutation of patient 2.
Mutation analysis of GJB2 gene region associated with KID in two unrelated female patients. (A) Patient 1, thickening and keratinization of eyelid margins, lash loss, cornea showing a rim of abnormal epithelium with superficial neovascularization peripheral, significant stromal scarring with extensive neovascularization. (A1) Sequencing chromatograms showing the GJB2 heterozygous transition c.148G>A in first patient. (A2) Unaffected mother of patient 1. (B) Patient 2, thickening and keratinization of eyelid margins, lash loss, diffuse opacification of cornea and loss of conjunctival luster. (B1) Sequencing chromatograms showing the same c.148G>A heterozygous transition in patient 2. (B2) Unaffected mother of patient 2. (B3) Sister who is carrying c.35delG heterozygous mutation of patient 2.
DOI: https://doi.org/10.2478/bjmg-2022-0014 | Journal eISSN: 2199-5761
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Language: English
Page range: 79 - 84
Published on: Mar 1, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
gene,
keratitis-ichthyosis-deafness syndrome,
KID,
p.D50N,
steroid therapy
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 T Kalezić, I Vuković, M Stojković, S Stanojlović, J Karanović, G Brajušković, D Savić-Pavićević, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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