First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review.

This research describes the first documented case where a child has been genetically confirmed to have both Bardet-Biedl Syndrome (BBS) and autism spectrum disorder (ASD) at the same time. The patient is a 4-year-old boy who shows symptoms of both conditions - he has the physical features typical of BBS like extra fingers or toes (polydactyly), kidney problems, muscle weakness, and vision problems, along with the social and behavioral challenges seen in autism. The researchers used advanced genetic testing called whole exome sequencing to look at the child's DNA. They found a genetic change in the BBS10 gene that causes Bardet-Biedl Syndrome, and also discovered a change in another gene called OGT that might contribute to autism. This is important because it suggests these two conditions might share some common genetic pathways, even though they affect different parts of the body and brain. This finding matters for families because it shows that children can have both conditions together, which doctors should consider when making diagnoses. It also opens up new research directions to better understand how these genetic changes work together, which could eventually lead to better treatments. However, this is still early-stage research focused on understanding the genetics involved rather than testing specific therapies.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic ciliopathy, whereas autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and restricted, repetitive behaviors. While both conditions are independently associated with genetic etiologies, their co-occurrence is exceptionally rare. To date, no prior report has confirmed such co-occurrence through molecular genetic analysis. We report a 4-year-old male diagnosed with both BBS type 10 and ASD. Whole exome sequencing (WES) revealed a homozygous pathogenic variant in the BBS10 gene and a novel heterozygous intronic variant in the OGT gene, classified as a variant of uncertain significance. Clinically, the patient exhibited features consistent with both disorders, including retinal degeneration, polydactyly, renal anomalies, hypotonia, and ASD-specific behavioral patterns. This case represents the first genetically confirmed co-occurrence of BBS10 and ASD. The identification of a potentially contributory non-coding variant in the OGT gene provides novel insight into the shared genetic and pathophysiological mechanisms underlying ciliopathies and neurodevelopmental disorders. The findings emphasize the importance of dual diagnostic consideration in complex pediatric cases and demonstrate the value of genomic analysis in revealing rare genetic overlaps.