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

28.3K
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:
28.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
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...
1.0K
Pleiotropy01:33

Pleiotropy

44.1K
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,...
44.1K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.3K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.3K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

10.1K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.1K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

38.8K
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...
38.8K

You might also read

Related Articles

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

Sort by
Same author

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Author Correction: BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

Nature cell biology·2026
Same author

A progeria syndrome links DNA hypermethylation to age-related pathology.

Nature genetics·2026
Same author

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

American journal of human genetics·2025
Same author

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.

European journal of immunology·2025
Same author

<i>CDK4</i> loss-of-function mutations cause microcephaly and short stature.

Genes & development·2025
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
Same journal

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.

Orphanet journal of rare diseases·2026
Same journal

Mortality trends and socioeconomic inequalities in sickle cell disease in Colombia, 2012-2023: a population-based study.

Orphanet journal of rare diseases·2026
Same journal

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Orphanet journal of rare diseases·2026
Same journal

Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy.

Orphanet journal of rare diseases·2026
Same journal

Fatigue and pain in children with multiple osteochondromas: a cross-sectional study.

Orphanet journal of rare diseases·2026
See all related articles

Related Experiment Video

Updated: Apr 3, 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

2.8K

Meier-Gorlin syndrome.

Sonja A de Munnik1, Elisabeth H Hoefsloot2, Jolt Roukema3

  • 1Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Sonja.demunnik@radboudumc.nl.

Orphanet Journal of Rare Diseases
|September 19, 2015
PubMed
Summary
This summary is machine-generated.

Meier-Gorlin syndrome (MGS) is a rare genetic disorder causing primordial dwarfism. This study offers guidelines for MGS patient care, focusing on diagnosis, genetic causes, and managing associated health issues.

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.5K
Assessing Social Dominance in Mouse Models Using the Tube Test
03:34

Assessing Social Dominance in Mouse Models Using the Tube Test

Published on: June 6, 2025

1.8K

Related Experiment Videos

Last Updated: Apr 3, 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

2.8K
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.5K
Assessing Social Dominance in Mouse Models Using the Tube Test
03:34

Assessing Social Dominance in Mouse Models Using the Tube Test

Published on: June 6, 2025

1.8K

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder.
  • Characterized by microtia, patellar anomalies, and proportionate short stature.
  • Associated features include feeding issues, pulmonary emphysema, and urogenital anomalies.

Purpose of the Study:

  • To provide experience-based guidelines for MGS patient care.
  • To outline diagnostic criteria and genetic associations.
  • To detail management strategies for associated complications.

Main Methods:

  • Review of clinical features and diagnostic criteria for MGS.
  • Analysis of genetic mutations in pre-replication complex genes (ORC1, ORC4, ORC6, CDT1, CDC6).
  • Summary of management approaches for MGS-associated conditions.

Main Results:

  • Diagnosis requires at least two features: microtia, patellar anomalies, or growth retardation.
  • Mutations in pre-replication complex genes are found in 67-78% of MGS patients.
  • ORC1 and ORC4 mutations correlate with severe short stature and microcephaly.

Conclusions:

  • MGS management requires comprehensive investigation and treatment of associated problems.
  • Growth hormone therapy is generally ineffective but may benefit select patients.
  • Experience-based guidelines are proposed for regular MGS care and treatment.