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New ocular finding in Baraitser-Winter syndrome (BWS)
Natalie Rall1, Alejandro Leon2, Ricardo Gomez3
1Volunteer Children's Hospital, New Orleans, LA, USA.
European Journal of Medical Genetics
|October 13, 2017
Summary
Baraitser-Winter syndrome, a genetic disorder, is caused by variants in ACTB or ACTG1 genes. This case study identifies a new ocular finding, corectopia, expanding the syndrome's known features.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Baraitser-Winter syndrome (BWS) is a rare genetic disorder characterized by intellectual disability, facial dysmorphisms, and ocular anomalies.
- Pathogenic variants in the ACTB and ACTG1 genes have been identified as the underlying cause of BWS.
- The phenotypic spectrum of BWS is broad and continues to expand with new case reports.
Observation:
- A 3-year-old girl presented with short stature, mild global developmental delay, and minor brain anomalies.
- She exhibited dysmorphic features, including unusual iris stroma and previously unreported corectopia.
- Exome sequencing revealed a de novo likely pathogenic variant in the ACTB gene.
Findings:
- The identified ACTB gene variant expands the known genetic causes of Baraitser-Winter syndrome.
- The case highlights corectopia as a novel ocular manifestation of BWS.
- This report contributes to understanding the genotype-phenotype correlation in BWS.
Implications:
- This finding broadens the phenotypic spectrum of Baraitser-Winter syndrome, aiding in future diagnoses.
- Further research into ACTB and ACTG1 variants may elucidate genotype-specific phenotypes.
- Recognition of corectopia in BWS can improve ophthalmological management and patient care.