Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with <i>BBS9</i> Gene Mutation in a Korean Patient

Kim, Yong Hoon; Joo, Kwang Sic; Seong, Moon Woo; Park, Sung Sup; Woo, Se Joon

doi:10.3341/kjo.2019.0083

Cited by 3 publications

(4 citation statements)

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“…Perturbation of ciliary proteins can give rise to a broad range of phenotypes in mammals, called ciliopathies [ 6 ]. BBS9 gene encodes for 1 of the 7 BBS highly conserved proteins that form the stable core of this BBS protein complex, required for ciliogenesis [ 20 ]. BBS patients are typically affected with obesity, retinal degeneration, kidney anomalies, polydactyly and olfactory deficits.…”

Section: Discussionmentioning

confidence: 99%

“…Splice site variants in BBS9 are known to be pathogenic and they have been described in several families with BBS (Fig. 2 b) [ 11 , 20 ]. However, there is still no established way to predict how these variants will affect the manner in which the pre-mRNA is spliced.…”

Section: Discussionmentioning

confidence: 99%

“…Most nucleotide changes lead to nonsense variants (34%, 13/38) and about 29% (11/38) of all variants occur at intron-exon boundaries and affect splicing donor or acceptor sites (Fig. 2b) [1,[10][11][12][13][14][15][16][17][18][19][20].…”

Section: Case Presentationmentioning

confidence: 99%

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Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

et al. 2021

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Background Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consanguineous Pakistani family with an affected child. Case presentation Clinical exome sequencing was used to search for BBS causing variants in the affected individual and identified a novel homozygous splice-site variant in the BBS9 gene (c.702 + 1del). Sanger sequencing was performed for variant validation and segregation studies. Expression analysis using mRNA levels to assess the functional impact of the novel variant demonstrated skipping of exon 7 in the affected alleles, suggesting a truncating effect. Three-dimensional structural modelling was used to predict pathogenicity of the variant residue and the alteration leads to a partial deletion of the PHTB1_N domain and a total deletion of the PHTB1_C domain. Conclusion The study of this case expands the spectrum of biallelic variants in the BBS9 gene associated with BBS and increased the knowledge on the molecular consequences of splicing variation c.702 + 1del.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

et al. 2021

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“…In addition, mutations in genes encoding PIP-binding proteins are frequently associated with inherited retinal degeneration. Mutations in TULP cause retinitis pigmentosa ( 20 ), mutations in BBS genes cause Bardet-Biedl syndrome and retinitis pigmentosa ( 21 ), and mutations in phosphatidyl inositol transfer protein PIT3NM3 are associated with autosomal dominant cone-rod dystrophy CORD5 ( 22 ). The serine/threonine kinase AKT3 binds to D3-PIPs and GWAS study has identified two AKT3 SNP-risk alleles associated with diabetic retinopathy ( 8 ).…”

Section: Introductionmentioning

confidence: 99%

Atlas of phosphoinositide signatures in the retina identifies heterogeneity between cell types

Rajala

Nair

et al. 2023

PNAS Nexus

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Phosphoinositides (PIPs) are a family of minor acidic phospholipids in the cell membrane. Phosphoinositide (PI) kinases and phosphatases can rapidly convert one PIP product into another resulting in the generation of seven distinct PIPs. The retina is a heterogeneous tissue composed of several cell types. In the mammalian genome, around 50 genes encode PI kinases and PI phosphatases; however, there are no studies describing the distribution of these enzymes in the various retinal cell types. Using translating ribosome affinity purification, we have identified the in vivo distribution of PI-converting enzymes from the rod, cone, retinal pigment epithelium (RPE), Müller glia, and retinal ganglion cells, generating a physiological atlas for PI-converting enzyme expression in the retina. The retinal neurons: rods, cones, and RGCs are characterized by the enrichment of PI-converting enzymes whereas the Müller glia and RPE are characterized by the depletion of these enzymes. We also found distinct differences between the expression of PI kinases and PI phosphatases in each retinal cell type. Since mutations in PI-converting enzymes are linked to human diseases including retinal diseases, the results of this study will provide a guide for what cell types are likely to be affected by retinal degenerative diseases brought on by changes in PI metabolism.

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Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

Cai

Lin

et al. 2022

Medicine

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Background: The Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder, characterized by clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, a retrospective study on 210 fetuses with congenital renal malformation was conducted. Methods: The fetuses were diagnosed using invasive prenatal tests, including chromosome karyotype analysis, whole exome sequencing (WES), and single-nucleotide polymorphism array. We found the intrauterine phenotype of a fetus presenting enlarged kidneys, enhanced echo, and oligohydramnios; therefore, the fetus was characterized to have BBS. Results: Chromosome karyotype analysis presented normal results. Analysis using an Affymetrix CytoScan 750K array revealed 2 homozygous regions. However, WES revealed a homozygous mutation of c.1177C>T (p.Arg393*) on exon 12 of BBS1 and a heterozygous variation of c.2704G>A (p.Asp902Asn) on exon 22 of CC2D2A . The American College of Medical Genetics and Genomics guidelines identified c.1177C>T and c.2704G>A as a pathogenic mutation and of uncertain significance, respectively. Sanger sequencing identified heterozygous mutation, that is, c.1177C>T and heterozygous variation, that is, c.2704G>A in the parents of the fetus. Conclusions: WES identified a novel homozygous nonsense mutation c.1177C>T in BBS1 of a Chinese fetus with congenital renal malformation. This finding provides insight into the BBS1 mutations in Asian populations in general and shows the necessity of genetic counseling.

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Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

Cited by 3 publications

References 4 publications

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Atlas of phosphoinositide signatures in the retina identifies heterogeneity between cell types

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation

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