Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

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

Potential Applications of Inhaled Insulin in Diabetic Ketoacidosis Prevention and During Exercise: Two Case Presentations.

Diabetes technology & therapeutics·2026

Same author

Clinical Trials in Diabetes: Examining the Value of Use of Continuous Dual Glucose-Ketone Monitoring.

Diabetes technology & therapeutics·2025

Same author

Exploring the Relationship Between Newly Defined Continuous Glucose Monitoring (CGM) Metrics and the Standard CGM Metrics in 30,000 People with Type 1 Diabetes.

Diabetes technology & therapeutics·2025

Same author

Differentiating Diabetic Gastroparesis and Cannabis Hyperemesis Syndrome in People With Type 1 Diabetes.

Clinical diabetes : a publication of the American Diabetes Association·2025

Same author

Registration and Real-Life Studies on Automated Insulin Delivery Systems.

Journal of diabetes science and technology·2025

Same author

Registration and Real-Life Studies on Automated Insulin Delivery Systems.

Diabetes technology & therapeutics·2025

Search research articles

Related Experiment Video

Updated: Feb 20, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Previously unreported abnormalities in Wolfram Syndrome Type 2.

Halis Kaan Akturk¹, Seda Yasa²

¹Assistant Professor of Medicine and Pediatrics, Barbara Davis Center for Childhood Diabetes, University of Colorado, Aurora, CO, USA.

Pediatric Endocrinology, Diabetes, and Metabolism

|October 27, 2017

Summary

Wolfram syndrome type 2 (WFS2) is a rare genetic disorder. This study highlights new clinical findings in WFS2 patients, including hypoparathyroidism and growth hormone deficiency, expanding diagnostic understanding.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

Related Experiment Videos

Last Updated: Feb 20, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

Area of Science:

Genetics and rare diseases
Endocrinology
Ophthalmology

Background:

Wolfram syndrome (WFS) is a rare autosomal recessive disorder.
WFS type 2 (WFS2) is characterized by upper gastrointestinal ulcers, bleeding, and absence of diabetes insipidus, distinguishing it from WFS type 1.
The genetic basis of WFS2 involves mutations in the CISD2 gene, with limited familial reports.

Observation:

Two siblings diagnosed with WFS2 were previously misdiagnosed with type 1 diabetes mellitus and blindness due to diabetic retinopathy.
The study identified previously unreported clinical and laboratory findings in these WFS2 patients.
These included asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency, and hepatomegaly.

Findings:

The case series confirms hypogonadotropic hypogonadism as a feature of WFS2, consistent with prior reports.
New findings suggest a broader spectrum of endocrine and metabolic abnormalities in WFS2.
Accurate diagnosis of WFS2 is crucial, as misdiagnosis can lead to inappropriate treatment and management.

Implications:

This research expands the clinical understanding of Wolfram syndrome type 2.
Early and accurate diagnosis of WFS2 can improve patient outcomes and management strategies.
Further research into the CISD2 gene and WFS2 pathogenesis is warranted to develop targeted therapies.