Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene

Alessandro Iannaccone; Kirk Mykytyn; Antonio M Persico; Charles C Searby; Alfonso Baldi; Monica M Jablonski; Val C Sheffield

doi:10.1002/ajmg.a.30512

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Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene

Journal article

Peer reviewed

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene

Alessandro Iannaccone, Kirk Mykytyn, Antonio M Persico, Charles C Searby, Alfonso Baldi, Monica M Jablonski and Val C Sheffield

American journal of medical genetics. Part A, Vol.132A(4), pp.343-346

02/01/2005

DOI: 10.1002/ajmg.a.30512

PMID: 15654695

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Abstract

Recent discoveries have lead to the hypothesis that ciliary dysfunction is a mechanism underlying the pathogenesis of Bardet-Biedl syndrome (BBS). Here, we describe two individuals with decreased olfaction who are members of an extended family affected with BBS caused by a homozygous deletion (c.77-220del) in the BBS4 gene. These findings correlate with the evidence that several BBS proteins, including BBS4, are expressed in the olfactory epithelium (OE). Although the prevalence and the spectrum of impaired olfaction in BBS are not known, the causal relationship of the BBS4 deletion in this family and the decreased olfaction is corroborated by evidence that Bbs2 and Bbs4 knockout mice have severe olfaction deficits and that also patients with BBS caused by mutations in other BBS genes can have impaired olfaction. This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis.

Proteins - genetics

Homozygote

Smell - physiology

Gene Deletion

Humans

Adult

Bardet-Biedl Syndrome - genetics

Family Health

Female

Male

Bardet-Biedl Syndrome - physiopathology

Details

Title: Subtitle: Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene
Creators: Alessandro Iannaccone - Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee, USA. iannacca@utmem.edu
Kirk Mykytyn
Antonio M Persico
Charles C Searby
Alfonso Baldi
Monica M Jablonski
Val C Sheffield
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.132A(4), pp.343-346
DOI: 10.1002/ajmg.a.30512
PMID: 15654695
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: EY11298 / NEI NIH HHS
Language: English
Date published: 02/01/2005
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984065498702771

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