AI Article Synopsis
- A study identified pathogenic variants linked to autosomal dominant congenital cataracts in five Ukrainian families, indicating a genetic basis for the condition.
- Whole-exome sequencing revealed novel mutations in genes such as HSF4, CRYGA, CRYGC, and PAX6, with one known mutation in GJA3.
- The research highlights the importance of transcription factors and lens crystallins in lens development and the genetic factors influencing cataracts.
Article Abstract
This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes, including the lens crystallins, are associated with congenital cataracts and other eye diseases. Whole-exome sequencing identified heterozygous disease-causing variants in five Ukrainian families with autosomal dominant congenital cataracts and cosegregation with cataracts was confirmed using Sanger sequencing. Family 97001 showed a missense variant (c.341T>A: p.L114Q) in HSF4; family 97003 showed a missense variant (c.53A>T: p.N18I) in CRYGA; family 97004 showed a missense variant (c. 82G>A: p.V28M) in GJA3; family 97006 showed a missense variant (c.83C>T: p. P28L) in CRYGC; and family 97008 showed a single-base insertion resulting in a frameshift (c.443_444insA: p. Met148IfsTer51) in PAX6. All five families are associated with congenital cataracts. Overall, we report four novel mutations in HSF4, CRYGA, CRYGC and PAX6, and one previously reported mutation in GJA3 that cause autosomal dominant congenital cataracts.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856374 | PMC |
| http://dx.doi.org/10.3390/children10010051 | DOI Listing |
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