Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, People's Republic of China.
Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Restoration of Damaged Ocular Nerve Beijing, Beijing, People's Republic of China.
Int Ophthalmol. 2020 Sep;40(9):2325-2343. doi: 10.1007/s10792-020-01415-3. Epub 2020 May 24.
To investigate complex and different phenotypes in seven Chinese patients diagnosed with Bardet-Biedl syndrome (BBS) and carrying pathogenic mutations.
Seven unrelated BBS patients were enrolled. Their medical and ophthalmic histories were reviewed, and comprehensive clinical examinations, such as fundus photography, optical coherence tomography, and medical imaging, were performed. A specific hereditary eye disease enrichment panel based on exome-capture technology was used to collect and amplify the protein-coding regions of 441 targeted hereditary eye disease genes, followed by high-throughput sequencing using the Illumina HiSeq platform.
All patients exhibited the primary clinical phenotype of BBS. Seven BBS mutations were found in five patients (BBS7 in two patients, BBS10 in two patients, BBS12 in one patient), for a detection rate of 71% (5/7). The ratio of novel to known BBS mutations was 5:2.
This study showed the phenotypic and genotypic spectrum of BBS patients from China, and the findings underscore the importance of obtaining comprehensive clinical observations and molecular analyses for ciliopathies.
研究 7 名诊断为 Bardet-Biedl 综合征（BBS）并携带致病突变的中国患者的复杂和不同表型。
纳入 7 名无亲缘关系的 BBS 患者。回顾他们的病史和眼科史，并进行全面的临床检查，如眼底照相、光学相干断层扫描和医学成像。使用基于外显子捕获技术的特定遗传性眼病富集面板收集和扩增 441 个靶向遗传性眼病基因的蛋白编码区，然后使用 Illumina HiSeq 平台进行高通量测序。
所有患者均表现出 BBS 的主要临床表型。在 5 名患者中发现了 7 种 BBS 突变（2 名患者为 BBS7，2 名患者为 BBS10，1 名患者为 BBS12），检出率为 71%（5/7）。新发现的 BBS 突变与已知的 BBS 突变的比例为 5:2。
本研究显示了中国 BBS 患者的表型和基因型谱，研究结果强调了对睫状体病变进行全面临床观察和分子分析的重要性。
