Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

doi:10.1038/jhg.2015.162

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Article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

Journal of human genetics - 1 May 2016

Schaefer Elise, Stoetzel Corinne, Scheidecker Sophie, Geoffroy Véronique, Prasad Megana K, Redin Claire, Missotte Isabelle, Lacombe Didier, Mandel Jean-Louis, Muller Jean, Dollfus Hélène

Abstract excerpt

Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. So far, 20 BBS genes have been identified, with the last reported ones being found...

Topics

Adaptor Proteins, Signal Transducing
Bardet-Biedl Syndrome
Carrier Proteins
Child
Child, Preschool
Computational Biology
Cytoskeletal Proteins
Exome
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Male
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 26763875
DOI: 10.1038/jhg.2015.162

Genes

IFT27

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-26763875-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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