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Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome

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Abstract

Purpose

To investigate complex and different phenotypes in seven Chinese patients diagnosed with Bardet–Biedl syndrome (BBS) and carrying pathogenic mutations.

Methods

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.

Results

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.

Conclusions

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.

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Funding

This study was supported by a grant from the National Natural Science Foundation of China (No. 81271046).

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Authors and Affiliations

  1. Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, People’s Republic of China

    Tianchang Tao, Lei Wang, Weihua Chong & Genlin Li

  2. Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Restoration of Damaged Ocular Nerve Beijing, Beijing, People’s Republic of China

    Liping Yang

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  1. Tianchang Tao
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  2. Lei Wang
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Correspondence to Genlin Li.

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Tao, T., Wang, L., Chong, W. et al. Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome. Int Ophthalmol 40, 2325–2343 (2020). https://doi.org/10.1007/s10792-020-01415-3

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  • DOI: https://doi.org/10.1007/s10792-020-01415-3

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