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

Genetic Lingo01:11

Genetic Lingo

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Pleiotropy01:33

Pleiotropy

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,...

You might also read

Related Articles

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

Sort by
Same author

In Utero Molecular-Targeted Drug Therapies: Translational Principles, Pharmacologic Considerations, and Emerging Clinical Applications.

Journal of clinical medicine·2026
Same author

Case Series of Extracorporeal Cardiopulmonary Resuscitation for Refractory Cardiopulmonary Arrest After Cardiac Surgery.

ASAIO journal (American Society for Artificial Internal Organs : 1992)·2026
Same author

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

American journal of human genetics·2026
Same author

Hidden danger of microaxial flow pumps: Five cases of aortic and innominate mural thrombi.

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation·2026
Same author

Outcomes Comparison of Venoarterial Extracorporeal Life Support With Acute Decompensated Heart Failure Versus Acute Myocardial Infarction.

ASAIO journal (American Society for Artificial Internal Organs : 1992)·2025
Same author

Impact of comorbidity burden on outcome in patients with cardiogenic shock: A Cardiogenic Shock Working Group analysis.

European journal of heart failure·2025

Related Experiment Video

Updated: Jun 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Genotype-phenotype correlation in X-linked Alport syndrome.

Mir Reza Bekheirnia1, Berenice Reed, Martin C Gregory

  • 1Department of Medicine, University of Colorado Denver, Aurora, Colorado 80045, USA.

Journal of the American Society of Nephrology : JASN
|April 10, 2010
PubMed
Summary

Genetic testing for X-linked Alport syndrome (XLAS) reveals strong genotype-phenotype correlations. Mutation type and location significantly impact disease progression, including hearing loss, ocular changes, and end-stage renal disease onset.

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Related Experiment Videos

Last Updated: Jun 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Area of Science:

  • Genetics
  • Nephrology
  • Ophthalmology

Background:

  • X-linked Alport syndrome (XLAS) is caused by mutations in the COL4A5 gene.
  • Genetic testing for XLAS is becoming more accessible, increasing the need for understanding genotype-phenotype correlations.
  • Clinical manifestations like hearing loss and ocular changes vary among affected individuals.

Purpose of the Study:

  • To determine the association between specific COL4A5 gene mutations (genotype) and clinical outcomes (phenotype) in male patients with XLAS.
  • To evaluate the prognostic value of genetic testing in families with XLAS.
  • To investigate the relationship between mutation location and disease severity.

Main Methods:

  • Analysis of genotype and phenotype data from 681 affected males across 175 US families.
  • Statistical analysis to correlate mutation types (missense, splice-site, truncating) and positions with clinical features.
  • Assessment of age at end-stage renal disease (ESRD) onset, hearing loss, and ocular changes.

Main Results:

  • Hearing loss and ocular changes were observed in 67% and 30% of participants, respectively.
  • Average age of ESRD onset varied significantly by mutation type: 37 years (missense), 28 years (splice-site), and 25 years (truncating).
  • Mutations closer to the 5' end of the COL4A5 gene were associated with earlier ESRD onset, hearing loss, and ocular issues.

Conclusions:

  • Strong genotype-phenotype correlations exist in XLAS, particularly regarding mutation type and location.
  • These correlations can aid in predicting disease progression and counseling families.
  • Understanding these relationships enhances the prognostic value of genetic testing for XLAS.