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The Phenotype in Norwegian Patients With Bardet-Biedl Syndrome With Mutations in the BBS4 Gene
Ruth Riise, MD, PhD;
Kristina Tornqvist, MD, PhD;
Alan F. Wright, MB, PhD;
Kirk Mykytyn, PhD;
Val C. Sheffield, MD, PhD
Arch Ophthalmol. 2002;120:1364-1367.
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.
From the Department of Ophthalmology, Central Hospital of Hedmark,
Hamar, Norway (Dr Riise); Department of Ophthalmology, University Hospital
of Lund, Lund, Sweden (Dr Tornqvist); MRC Human Genetics Unit, Western General
Hospital, Edinburgh, Scotland (Dr Wright); and Department of Ophthalmology,
The University of Iowa, Iowa City (Drs Mykytyn and Sheffield).
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