The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene

Ruth RIISE; Kristina TORNQVIST; Alan F WRIGHT; Kirk MYKYTYN; Val C SHEFFIELD

doi:10.1001/archopht.120.10.1364

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The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene

Journal article

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The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene

Ruth RIISE, Kristina TORNQVIST, Alan F WRIGHT, Kirk MYKYTYN and Val C SHEFFIELD

Archives of ophthalmology (1960), Vol.120(10), pp.1364-1367

2002

DOI: 10.1001/archopht.120.10.1364

PMID: 12365916

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Abstract

Objective: To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene. Methods: We examined 3 pairs of siblings with Bardet-Biedl syndrome in whom 3 different mutations in the BBS4 gene were detected, 2 of which were homozygous for the mutation. Results: All patients had an increased body mass index. The obesity varied between families from moderate to severe. All of the males had hypogenitalism. All had brachydactyly and similar dental anomalies. Polydactyly was present in 5 of the 6 patients. The number and location of the extra digits varied even between siblings. The intelligence varied between families and was within the normal range in 4 individuals. One male had spinal stenosis with paraparesis of his legs. Four patients had increased blood pressure, but only 1 had impaired renal function. Severe retinitis pigmentosa with onset in early childhood was present in all patients. There were few abnormal retinal pigmentary deposits even at advanced stages. Conclusions: The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease. The combinations of clinical signs are mostly independent of the individual BBS4 mutation and can vary even within pairs of siblings. It is possible that there is a characteristic appearance of the ocular fundus in patients with BBS4 mutations.

Obesity

Medical Genetics

Ophthalmology

Complex syndromes

Retinopathies

Biological and medical sciences

Metabolic diseases

Medical sciences

Details

Title: Subtitle: The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene
Creators: Ruth RIISE - Department of Ophthalmology, Central Hospital of Hedmark, Hamar, Norway
Kristina TORNQVIST - Department of Ophthalmology, University Hospital of Lund, Lund, Sweden
Alan F WRIGHT - MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, United Kingdom
Kirk MYKYTYN - Department of Ophthalmology, The University of Iowa, Iowa City, United States
Val C SHEFFIELD - Department of Ophthalmology, The University of Iowa, Iowa City, United States
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.120(10), pp.1364-1367
DOI: 10.1001/archopht.120.10.1364
PMID: 12365916
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; Chicago, IL
Language: English
Date published: 2002
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984070484902771

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