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

Glucose Transporters01:27

Glucose Transporters

22.7K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.7K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

155
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
155
Pleiotropy01:33

Pleiotropy

40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K
Incomplete Dominance01:43

Incomplete Dominance

22.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.5K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.3K
Pedigree Analysis01:35

Pedigree Analysis

84.2K
Overview
84.2K

You might also read

Related Articles

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

Sort by
Same author

IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

Biomolecules·2026
Same author

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

NPJ genomic medicine·2024
Same author

Personal journeys to and in human genetics and dysmorphology.

American journal of medical genetics. Part A·2024
Same author

3'UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

Diagnostics (Basel, Switzerland)·2022
Same author

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Genes·2022
Same author

DNA Methylation, Mechanisms of <i>FMR1</i> Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

Biomolecules·2021
Same journal

Upper Extremity Entrapment Neuropathies in Adults With Arthrogryposis Multiplex Congenita: A National Database Study.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same journal

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same journal

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same journal

Apical Ectodermal Ridge Disruption and Hypoplastic Digits in Amyoplasia.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same journal

Caring for Pediatric Clients With Arthrogryposis Multiplex Congenita: The Development of an Occupational Therapy Continuing Education Course.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same journal

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway - A Description of Demographic, Medical, and Neurological Findings.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 26, 2025

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

2.4K

Simpson-Golabi-Behmel syndrome.

Alessandro Vaisfeld1,2, Giovanni Neri3

  • 1Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|May 20, 2024
PubMed
Summary
This summary is machine-generated.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition causing overgrowth and congenital anomalies. While often linked to GPC3 gene mutations, many cases lack these, suggesting other genetic factors may be involved.

Keywords:
GPC3SGBSX‐linked inheritancerisk of neoplasiasyndromic overgrowth

More Related Videos

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

31.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

Related Experiment Videos

Last Updated: Jun 26, 2025

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

2.4K
Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

31.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder characterized by overgrowth and multiple congenital anomalies.
  • It exhibits variable expressivity in males and reduced penetrance in females, with a broad clinical spectrum.
  • An increased risk of neoplasia necessitates regular patient surveillance.

Purpose of the Study:

  • To investigate the genetic basis of Simpson-Golabi-Behmel syndrome (SGBS).
  • To explore the role of the GPC3 gene and its mutations in SGBS.
  • To identify potential genetic factors beyond GPC3 mutations in SGBS cases.

Main Methods:

  • Genetic analysis of patients diagnosed with Simpson-Golabi-Behmel syndrome.
  • Mutation screening of the GPC3 gene, including deletions and point mutations.
  • Clinical evaluation and correlation of genotype with phenotype.

Main Results:

  • SGBS is primarily caused by loss-of-function mutations in the GPC3 gene.
  • However, a significant proportion of clinically diagnosed SGBS cases do not harbor detectable GPC3 mutations.
  • The GPC3 protein is a cell surface glypican crucial for the Hedgehog signaling pathway, regulating cellular growth.

Conclusions:

  • While GPC3 mutations are a key cause of SGBS, other genetic factors likely contribute to the syndrome's etiology.
  • Further research is needed to elucidate the complete genetic landscape of SGBS.
  • Understanding the genetic underpinnings of SGBS is vital for diagnosis, management, and potential therapeutic strategies.