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| Main Authors: | , , , , |
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| Format: | Artículo científico |
| Language: | en |
| Published: |
Ophthalmic genetics
2025
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| Subjects: | |
| Online Access: | https://pubmed.ncbi.nlm.nih.gov/40570856/ |
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Table of Contents:
- A novel -associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome. Hayashi, Takaaki Mizobuchi, Kei Suga, Akiko Yoshitake, Kazutoshi Iwata, Takeshi Humans Male COUP Transcription Factor I Adolescent Comparative Genomic Hybridization Intellectual Disability Developmental Disabilities Optic Atrophy Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder that typically presents in early childhood. It is characterized by intellectual disability, developmental delay, and visual impairment, with optic atrophy being the most prominent ophthalmologic feature. The () gene is currently the only known causative gene associated with BBSOAS. To date, no cases of BBSOAS have been reported in the Japanese population. We reported a 13-year-old Japanese male suspected of having BBSOAS, who presented with decreased visual acuity due to bilateral optic atrophy, as well as intellectual disability and developmental delay. Microarray-based comparative genomic hybridization (array-CGH), followed by whole-genome sequencing (WGS), identified a novel 1.48-Mb heterozygous microdeletion involving . This is the first reported case of BBSOAS in a Japanese patient. These findings highlight the utility of array-CGH and WGS as powerful tools for detecting -related microdeletions. BBSOAS should be considered in the differential diagnosis of patients presenting with developmental delay, intellectual disability, and visual impairment, even in the absence of a family history.