Article

Mutations in <i>BBS2</i> Cause Apparent Nonsyndromic Retinitis Pigmentosa

2020-06-03

Abstract excerpt

<h4>Purpose</h4> To identify and functionally test the causative mutations in the BBS2 gene in a family presenting with retinitis pigmentosa and infertility and to generate a bbs2 −/− mutant zebrafish. <h4>Methods</h4> A female proband and her male sibling were clinically evaluated and genetic testing with targeted next-generation sequencing was performed. Mutations were verified by Sanger sequencing. Protei...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 845227e3-259c-5d87-a5c1-555871bedaa1
DOI: 10.1101/2020.06.03.130518

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in <i>BBS2</i> Cause Apparent Nonsyndromic Retinitis PigmentosaDOI 10.1101/2020.06.03.130518Read

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Semantic proximity Read

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read

Exome capture sequencing identifies a novel mutation in BBS4.Semantic proximity Read

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Semantic proximity Read

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.Semantic proximity Read

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.Semantic proximity Read

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid compositionSemantic proximity Read

Non-Syndromic Cone-Predominant Retinal Degeneration Associated with Homozygosity for the M390R Mutation in BBS1 GeneSemantic proximity Read

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.Semantic proximity Read

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.Semantic proximity Read

Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal RegenerationSemantic proximity Read

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.Semantic proximity Read