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Article

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

European journal of medical genetics - 1 Dec 2015

Ece Solmaz Asli, Onay Huseyin, Atik Tahir, Aykut Ayca, Cerrah Gunes Meltem, Ozalp Yuregir Ozge, Bas Veysel Nijat, Hazan Filiz, Kirbiyik Ozgur, Ozkinay Ferda

Abstract excerpt

Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning difficulties. To date, mutations in 21 different genes have been described as being responsible for BBS. Recently sequential gene sequencing has been replaced by next generation sequencing (NGS) applications. In this...

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Source

Identifiers

PMID: 26518167
DOI: 10.1016/j.ejmg.2015.10.011

Genes

BBS1
BBS10
BBS2
BBS4
BBS7
BBS9
ARL6
BBS12
BBS5
MKKS
MKS1
NPHP1
SDCCAG8
TRIM32

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.PMID 26518167Read ↗

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.Semantic proximity Read ↗

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Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.Semantic proximity Read ↗

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström SyndromesSemantic proximity Read ↗

Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).Semantic proximity Read ↗

Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.Semantic proximity Read ↗

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Semantic proximity Read ↗

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.Semantic proximity Read ↗

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.Semantic 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 ↗

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