Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Lingo01:11

Genetic Lingo

Overview
Probability Laws01:49

Probability Laws

Overview
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Redox biology·2025
Same author

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BMC health services research·2023
Same author

Real-world data in oncology: a questionnaire-based analysis of the academic research landscape examining the policies and experiences of the cancer cooperative groups.

ESMO open·2023
Same author

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Scientific reports·2022
Same author

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.

Nature communications·2021
Same author

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations·2020
Same journal

Corrigendum to 'Pink adipose tissue: A paradigm of adipose tissue plasticity' [Ann. Endocrinol. 85 (2004) 248-51].

Annales d'endocrinologie·2026
Same journal

Intraoperative location of parathyroid glands during total thyroidectomy: a systematic review of the literature according to the PRISMA method.

Annales d'endocrinologie·2026
Same journal

Clinical and genetic diagnosis of PHP1A associated with hypogonadism in a young male: A case report.

Annales d'endocrinologie·2026
Same journal

Autoimmune features in acquired generalized lipodystrophy and anti-perilipin 1 antibodies: A case report.

Annales d'endocrinologie·2026
Same journal

The diagnostic challenge of occult glucocorticoid exposure causing Cushing's syndrome.

Annales d'endocrinologie·2026
Same journal

ACTH-dependent Cushing's syndrome in MEN1: When multiple tumors complicate the diagnosis.

Annales d'endocrinologie·2026
See all related articles

Related Experiment Video

Updated: Jun 27, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

[Bardet-Biedl syndrome].

C Rooryck1, D Lacombe

  • 1Laboratoire de Génétique Humaine, Université Victor-Segalen, Bordeaux cedex, France. Caroline.rooryck-thambo@chu-bordeaux.fr

Annales D'Endocrinologie
|November 21, 2008
PubMed
Summary
This summary is machine-generated.

Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting multiple organs. Early recognition and molecular diagnosis are crucial for genetic counseling and multidisciplinary care.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Experiment Videos

Last Updated: Jun 27, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

  • Genetics
  • Ciliopathies
  • Rare diseases

Context:

  • Bardet-Biedl syndrome (BBS) is a complex ciliopathy with a prevalence of 1/125,000 to 1/175,000 in Europe.
  • Characterized by a variable combination of clinical signs including obesity, pigmentary retinopathy, polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.
  • Associated with genetic heterogeneity, primarily autosomal recessive inheritance, with mutations in 12 BBS genes identified.

Purpose:

  • To outline the clinical spectrum and genetic basis of Bardet-Biedl syndrome.
  • To emphasize the importance of molecular diagnosis for genetic counseling and prenatal diagnosis.
  • To highlight the need for multidisciplinary care for patients with BBS.

Summary:

  • BBS presents with a wide range of symptoms, with pigmentary retinopathy being the most consistent sign after infancy.
  • Renal abnormalities pose the most significant life-threatening risk, potentially leading to end-stage renal failure.
  • Other significant features include progressive vision loss, moderate intellectual disability, and obesity, impacting patients' social lives.

Impact:

  • Facilitates early identification and management of Bardet-Biedl syndrome.
  • Enables accurate genetic counseling and prenatal diagnostic options for affected families.
  • Underscores the necessity of a comprehensive, multidisciplinary approach to patient care.