Evidence map›Paper›PMID 40087798›Full record

ArticleOrphanet journal of rare diseases2025

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Kristian Tveten, Hilde Nordgarden, Jeanette Ullmann Miller, Pamela Marika Åsten, Gisela Vasconcelos, Mari Ann Kulseth, Øystein Lunde Holla, Hanne Gro Olsen and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026
    Article
  2. Article
  3. Article
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Cecilie Fremstad RustadCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway. cerus@ous-hf.no.ORCID http://orcid.org/0000-0001-7903-9087
Ragnheidur BragadottirThe Medical Faculty, University of Oslo, Oslo, Norway.
Kristian TvetenDepartment of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Hilde NordgardenNational Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.
Jeanette Ullmann MillerCentre for Rare Disorders, Oslo University Hospital, Oslo, Norway.
Pamela Marika ÅstenNational Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.
Gisela VasconcelosNational Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.
Mari Ann KulsethDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Øystein Lunde HollaDepartment of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Hanne Gro OlsenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Charlotte von der Lippe *Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Solrun Sigurdardottir *Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBardet-Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants.

methodsA cross-sectional study of 30 adults with BBS (15 males, 15 females, mean age 39.8 ± 13.6 years) was recruited from a single centre for rare disorders in Norway. Participants attended a one day hospital visit including medical (blood pressure, body mass index), ophthalmological and oral examinations. Blood samples were collected and genetic analyses were performed.

resultsAge at diagnosis varied from one year to 30 years. The incidence of overweight/obesity, hypertension, kidney disease, and diabetes mellitus was 82%, 67%, 27%, and 23%, respectively. All had retinitis pigmentosa. Prior to the study, 14 participants (47%) had confirmed extinguished electroretinography. Eleven participants were examined with electroretinography during the study period, and all had extinguished electroretinography. 50% perceived light, 23% saw hand motion, and one participant did not perceive light. Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%). A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9). Other variants were found in BBS5, BBS7, BBS9, and MKKS. In addition to exon-located variants, a novel deep intronic variant causing mis-splicing was identified in BBS7.

conclusionsA multidisciplinary examination is important for proper management of BBS. The genotype and phenotype of this sample were heterogeneous, including kidney failure, genital anomalies and obesity. Genome sequencing increased the likelihood of identifying the genetic cause. In BBS populations, the patients will benefit from testing or reanalysis, preferably with genome sequencing, including searching for deep intronic variants.

Indexed as

Bardet-Biedl SyndromeAdolescentAdultChildChild, PreschoolCross-Sectional StudiesFemaleHumansInfantMaleMiddle AgedNorwayYoung AdultAdultsBardet–Biedl syndromeDeep intronic variantGenotypeKidney diseaseObesityOral anomaliesPhenotypeRetinitis pigmentosa

Identifiers

PMID40087798
PMCPMC11909833

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.