Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Meng, Xiangjun; Long, Yanling; Ren, Jiayun; Wang, Gang; Yin, Xin; Li, Shiying

doi:10.3389/fcell.2021.635216

Cited by 16 publications

(26 citation statements)

References 49 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The visual acuity of the BBS cohort decreased from an average of around 0.2 in young children to 0 at age 50 ( Figure 1 ). This is comparable to that reported elsewhere [ 14 , 36 , 37 , 38 , 39 ]. All of the patients showed changes in the morphology of the fundus in the fundus photographs and AF images, demonstrating that retinal dystrophy is a general deficiency in BBS patients [ 14 , 36 , 37 , 38 , 39 ].…”

Section: Discussionsupporting

confidence: 92%

“…This is comparable to that reported elsewhere [ 14 , 36 , 37 , 38 , 39 ]. All of the patients showed changes in the morphology of the fundus in the fundus photographs and AF images, demonstrating that retinal dystrophy is a general deficiency in BBS patients [ 14 , 36 , 37 , 38 , 39 ]. RP along with “general imperfections of development” were the first features to be reported about the syndrome [ 3 ].…”

Section: Discussionsupporting

confidence: 92%

“…We find that the phenotype of the different BBS genes in our cohort is heterogeneous, with diverse features occurring in all mutations. This is characteristic of the syndrome [ 6 , 38 , 67 ]; however, in recent years, by analyzing larger patient cohorts, some associations have been published.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Nasser

Kohl

Kurtenbach

et al. 2022

Genes

View full text Add to dashboard Cite

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthalmic examination including visual acuity and color vision testing, electroretinography (ERG), visually evoked potential recording (VEP), fundus examination, and spectral domain optical coherence tomography (SD-OCT). Adaptive optics flood illumination ophthalmoscopy was performed in five patients. All patients had received diagnostic genetic testing and were selected upon the presence of apparent biallelic variants in known BBS-associated genes. All patients had retinal dystrophy with morphologic changes of the retina. Visual acuity decreased from ~0.2 (decimal) at age 5 to blindness 0 at 50 years. Visual field examination could be performed in only half of the patients and showed a concentric constriction with remaining islands of function in the periphery. ERG recordings were mostly extinguished whereas VEP recordings were reduced in about half of the patients. The cohort of patients showed 51 different likely biallelic mutations—of which 11 are novel—in 12 different BBS-associated genes. The most common associated genes were BBS10 (32.8%) and BBS1 (24.6%), and by far the most commonly observed variants were BBS10 c.271dup;p.C91Lfs*5 (21 alleles) and BBS1 c.1169T>G;p.M390R (18 alleles). The phenotype associated with the different BBS-associated genes and genotypes in our cohort is heterogeneous, with diverse features without genotype–phenotype correlation. The results confirm and expand our knowledge of this rare disease.

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 92%

See 1 more Smart Citation

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Nasser

Kohl

Kurtenbach

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

“…Genomic DNA extraction, targeted next-generation sequencing, and bioinformatics analysis were followed by the methods of Dr. Meng et al 2021 [ 10 ]. Targeted next-generation sequencing (NGS) was performed using a capture panel including 195 known inherited retinal disease (IRD) genes (Supplementary Table 1 ).…”

Section: Methodsmentioning

confidence: 99%

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Mao

Long

Liu

et al. 2021

Journal of Ophthalmology

Self Cite

View full text Add to dashboard Cite

Purpose. To delineate the clinical and genetic characteristics of Chinese patients with RPGRIP1-associated Leber congenital amaurosis 6 (LCA6). Methods. After screening 352 unrelated families with clinically diagnosed RP, five LCA6 patients with RPGRIP1 variations from unrelated Chinese families were identified. Full ophthalmology examinations, including decimal best-corrected visual acuity (BCVA), fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), multifocal electroretinography (mfERG), perimetry, and flash visual evoked potential (FVEP), were performed. Target next-generation sequencing (NGS) and Sanger sequencing were performed for the five patients to identify and to validate candidate disease-causing variants. Results. Five patients were molecularly diagnosed as the LCA6 associated with RPGRIP1 variation, with typical clinical characteristics including congenital night blindness, nystagmus, and visual defect, at an early age. Interestingly, LCA6 exhibited extensive clinical heterogeneity and the changes in the morphology and function were not completely consistent in the five LCA6 patients. Case 1 showed extensive inferior-nasal retinal atrophy with a corresponding area of hypofluorescence in fundus autofluorescence, and the fundus photograph was nearly normal in cases 2 and 3. The ERG results displayed a moderately reduced rod-system response in cases 1 and 2 and a significant reduced rod-system response in case 3. Both case 4 and case 5 showed mottled pigmentation in fundi and an unrecordable rod and cone-system response in ERG. Moreover, we identified eight compound variants and one homozygous variant in the five patients with RPGRIP1. Conclusions. This is the largest report focused on the clinical electrophysiological features of patients with associated LCA6 caused by the variation in the RPGRIP1 gene in the Chinese population with an enriched phenotypic and genotypic background of LCA6 to improve future gene therapies.

show abstract

“…More than 20 genes have been found to be associated with BBS. Nearly 40 Chinese families with genetic diagnosis of BBS have been reported, including BBS1, BBS2, BBS3, BBS4, BBS6, BBS7, BBS9, BBS10, BBS12, BBS13 and BBS16 1 . However, BBS5 has never been reported in this population.…”

Section: Introductionmentioning

confidence: 89%

Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype

Shao

Shi

et al. 2022

Nephrology

View full text Add to dashboard Cite

Bardet‐Biedl syndrome type 5 (BBS5) has never been reported in Chinese populations. The aim of this study is to report the first BBS5 case in China, explore the phenotype and genotype correlation. The case was male, Han nationality, born with polydactyly and gained weight after birth, accompanied by polydipsia, polyuria and nocturia. He was found to have low vision at the age of 7 years, and having insufficient renal function at the age of 20 years. After hospitalization, he was found to have suffered from atrophy of the whole layer of macular retina, and end stage of kidney disease, presenting with shrinking and cyst‐like changes of bilateral kidneys. Whole‐exome sequencing was performed among the proband and his parents (Trios), further validated using Sanger sequencing and quantitative polymerase chain reaction. Two novel compound heterozygous variants of BBS5 gene [a missense variant NC_000002.12, NM_152384.3:c.1A>G(p.Met1?) & a large deletion c.(?_‐60)_(386 + 1_387‐1)del] were detected. BBS is rare, whereas BBS5 is rarer. Herein, we reported a Chinese BBS5 patient with severe renal phenotype and identified two novel BBS5 variants.

show abstract

Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort

Cited by 16 publications

References 49 publications

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype

Contact Info

Product

Resources

About