Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Tao, Tianchang; Liu, Jia; Wang, Bin; Pang, Jijing; Li, Xiaoxin; Huang, Lvzhen

doi:10.1177/11206721221136324

Cited by 3 publications

(3 citation statements)

References 39 publications

(64 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Except for one case without detailed data of variant, 19 BBS2 patients from 12 families were reported ( Xing et al, 2014 ; Chen et al, 2017 ; Li et al, 2017 ; Ding et al, 2018 ; Dan et al, 2020 ; Huang et al, 2021 ; Meng et al, 2021 ; Tang et al, 2022 ; Tao et al, 2022 ; Wei et al, 2022 ), including 12 (63.16%) compound heterozygous variants and 7 (36.84%) homozygous variants. Unlike report from the United States ( Guardiola et al, 2021 ), which reported hot spot variants in BBS1 and BBS7 , a total of 15 variants were reported in our series.…”

Section: Resultsmentioning

confidence: 99%

“…Among 10 BBS10 patients ( Lin et al, 2018 ; Wang et al, 2018 ; Tao et al, 2020 ; Liu et al, 2021 ; Li et al, 2022a ; Li et al, 2022b ; Dong et al, 2022 ; Lu et al, 2022 ; Tao et al, 2022 ; Yan et al, 2022 ), 7 had compound heterozygous variants and 3 had homozygous variants. A total of 11 variants were also reported.…”

Section: Resultsmentioning

confidence: 99%

“…The heterozygous variants c.1278A>G (p. Glu426Glu) and c.2059C+1G>C splicing variant were reported in 2 patients from one and 2 families, respectively. Other Among 10 BBS10 patients (Lin et al, 2018;Wang et al, 2018;Tao et al, 2020;Liu et al, 2021;Li et al, 2022a;Li et al, 2022b;Dong et al, 2022;Lu et al, 2022;Tao et al, 2022;, 7 had compound heterozygous variants and 3 had homozygous variants. A total of 11 variants were also reported.…”

Section: Genotypesmentioning

confidence: 99%

See 2 more Smart Citations

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

Xin-Yi,

Yang-Li,

Ling-Hui

2023

Front. Genet.

View full text Add to dashboard Cite

Objective: To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS).Methods: The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022. Patients with detailed clinical feature data were involved in the analysis.Results: A total of 153 Chinese patients, including 87 males, 53 females, and 12 unknown, were enrolled. Their ages ranged from 1.2 to 44 years old with a mean of 16.70 ± 9.90 years old. Among these patients, 80 (52.29%) were reported by ophthalmologists, and only 24 (15.68%) reported by pediatricians. Most patients (132/137, 96.35%) had visual problems; 131/153 (85.62%) had polydactyly; 124/132 (93.93%) were overweight or obese; 63/114 (55.26%) had renal abnormalities; kidney dysfunction was found in 33 (21.57%); 83/104 (79.81%) had hypogonadism and/or genital hypoplasia; and 111/136 (81.62%) had mental retardation. In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 BBS7 (24.71%), 20 BBS2 (22.73%), and 10 BBS10 (11.24%) patients. Moreover, 11 fetuses were diagnosed prenatally in the last 4 years except for one patient in 2004 year. It was noted that BBS7 had higher penetrance. BBS2 had higher hearing impairment and lower renal abnormality penetrance. BBS10 also had lower renal abnormality penetrance as well.Conclusion: Misdiagnosis or miss diagnosis of BBS may be common in China. In patients with polydactyly, visual impairment, obesity, renal abnormalities, hypogonadism, and mental retardation, or in fetuses with polydactyly and/or renal abnormalities, BBS should be considered in the differential diagnosis. Other deformities should be evaluated carefully and genetic analysis should be performed as early as possible.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Genotypesmentioning

confidence: 99%

See 1 more Smart Citation

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

Xin-Yi,

Yang-Li,

Ling-Hui

2023

Front. Genet.

View full text Add to dashboard Cite

show abstract

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

Huang

Zhou

et al. 2023

Hum Genet

View full text Add to dashboard Cite

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Gao,

Zhang,

Ding

et al. 2024

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS. Thus, our study aimed to describe the genotypic and phenotypic spectra of BBS in China and to elucidate genotype–phenotype correlations. Methods Twenty Chinese patients diagnosed with BBS were enrolled in this study. We compared the phenotypes of Chinese BBS patients in this study with those from other countries to analyze the phenotypic differences across patients worldwide. In addition, genotype–phenotype correlations were described for our cohort. We also summarized all previously reported cases of BBS in Chinese patients (71 patients) and identified common and specific genetic variants in the Chinese population. Results Twenty-eight variants, of which 10 are novel, in 5 different BBS-associated genes were identified in 20 Chinese BBS patients. By comparing the phenotypes of BBSome-coding genes (BBS2,7,9) with those of chaperonin-coding genes (BBS10,12), we found that patients with mutations in BBS10 and 12 had an earlier age of onset (1.10 Vs. 2.20, p < 0.01) and diagnosis (4.64 Vs. 13.17, p < 0.01), whereas patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05). Furthermore, in 91 Chinese BBS patients, mutations were predominant in BBS2 (28.89%) and BBS7 (15.56%), and the most frequent variants were in BBS2: c.534 + 1G > T (10/182 alleles) and BBS7: c.1002delT (7/182 alleles), marking a difference from the genotypic spectra of BBS reported abroad. Conclusions We recruited 20 Chinese patients with BBS for genetic and phenotypic analyses, and identified common clinical manifestations, pathogenic genes, and variants. We also described the phenotypic differences across patients worldwide and among different BBS-associated genes. This study involved the largest cohort of Chinese patients with BBS, and provides new insights into the distinctive clinical features of specific pathogenic variants.

show abstract

Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome

Cited by 3 publications

References 39 publications

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

Contact Info

Product

Resources

About