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International Ophthalmology
Published in: International Ophthalmology 9/2020

01-09-2020 | Night-Blindness | Original Paper

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

Authors: Tianchang Tao, Lei Wang, Weihua Chong, Liping Yang, Genlin Li

Published in: International Ophthalmology | Issue 9/2020

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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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Metadata
Title
Characteristics of genotype and phenotype in Chinese patients with Bardet–Biedl syndrome
Authors
Tianchang Tao
Lei Wang
Weihua Chong
Liping Yang
Genlin Li
Publication date
01-09-2020
Publisher
Springer Netherlands
Published in
International Ophthalmology / Issue 9/2020
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI
https://doi.org/10.1007/s10792-020-01415-3

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