Supplementary Material for: First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review

Abstract
Introduction: 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.
Case Presentation: 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 intronic variant in the OGT gene, classified as a Variant of Uncertain Significance (VUS). Clinically, the patient exhibited features consistent with both disorders, including retinal degeneration, polydactyly, renal anomalies, hypotonia, and ASD-specific behavioral patterns.
Conclusion: 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.
Keywords: Bardet-Biedl Syndrome Type 10 (BBS10), Autism Spectrum Disorder (ASD), Ciliopathy, OGT gene, Neurodevelopmental Disorders

摘要
引言：巴德-毕德氏综合征（Bardet-Biedl Syndrome, BBS）是一类遗传异质性多系统纤毛病，而自闭症谱系障碍（Autism Spectrum Disorder, ASD）是以社交互动缺陷及局限、重复行为为特征的神经发育障碍。尽管两种疾病均与遗传病因独立相关，但二者共患的情况极为罕见。截至目前，尚无通过分子遗传学分析证实二者共患的相关报道。
病例报告：本文报告1例同时确诊为10型巴德-毕德氏综合征（BBS Type 10）与自闭症谱系障碍（ASD）的4岁男性患儿。全外显子测序（Whole Exome Sequencing, WES）检出BBS10基因的纯合致病变异，以及OGT基因上1个新的内含子变异，该变异被归类为意义未明变异（Variant of Uncertain Significance, VUS）。临床表现上，该患儿同时具备两种疾病的特征：视网膜变性、多指（趾）畸形、肾脏异常、肌张力低下，以及自闭症谱系障碍特异性行为模式。
结论：本病例为首次经遗传学证实的10型巴德-毕德氏综合征与自闭症谱系障碍共患病例。本次研究检出OGT基因上1个可能具有致病贡献的非编码变异，为揭示纤毛病与神经发育障碍共有的遗传及病理生理机制提供了新视角。本研究结果强调了在复杂儿科病例中需同时考虑双重诊断的重要性，并证实了基因组分析在揭示罕见遗传重叠现象中的价值。
关键词：10型巴德-毕德氏综合征（Bardet-Biedl Syndrome Type 10, BBS10）、自闭症谱系障碍（Autism Spectrum Disorder, ASD）、纤毛病、OGT基因、神经发育障碍