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

Search research articles

Related Experiment Videos

Mutations of CTNS causing intermediate cystinosis.

J Thoene¹, R Lemons, Y Anikster

¹Department of Pediatrics, University of Michigan, Ann Arbor 48109-0408, USA. jthoene@umich.edu

Molecular Genetics and Metabolism

|August 13, 1999

Summary

New mutations in cystinosis were identified in six patients with the intermediate form of the disease. Genetic analysis revealed novel mutations and demonstrated partial correction of cystinotic fibroblasts, offering insights into disease mechanisms.

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Six-stage revision surgery of a triple periprosthetic joint infection due to a delayed diagnosis of a bilateral psoas abscess: a case report.

Annals of the Royal College of Surgeons of England·2021

Same author

Post-exposure prophylaxis for HIV infection in sexual assault victims.

HIV medicine·2019

Same author

Tenofovir disoproxil fumarate/emtricitabine plus ritonavir-boosted lopinavir or cobicistat-boosted elvitegravir as a single-tablet regimen for HIV post-exposure prophylaxis.

The Journal of antimicrobial chemotherapy·2017

Same author

Novel class 1 Integrons and sequence types in VIM-2 and VIM-11-producing clinical strains of Enterobacter cloacae.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases·2017

Same author

In vivo horizontal dissemination of the bla<sub>KPC-2</sub> gene carried on diverse genetic platforms among clinical isolates of Enterobacteriaceae.

Journal of global antimicrobial resistance·2016

Same author

Clonal dissemination of Klebsiella pneumoniae ST258 harbouring KPC-2 in Argentina.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2011

Area of Science:

Genetics
Molecular Biology
Biochemistry

Background:

Cystinosis is a rare genetic lysosomal storage disease.
The intermediate form presents with a variable clinical course.
Genetic mutations are the underlying cause of cystinosis.

Observation:

Six patients with intermediate cystinosis were studied.
Two patients harbored previously undescribed mutations.
Disease inheritance patterns included compound heterozygosity and homozygosity for mild mutations.

Findings:

Novel mutations contributing to intermediate cystinosis were identified.
The genetic basis involves combinations of mild and severe mutations or homozygosity for mild mutations.
Transfection with normal or intermediate cystinosis cDNA partially corrected cystinotic fibroblasts.

Related Experiment Videos

Implications:

These findings expand the mutational spectrum of cystinosis.
Understanding genotype-phenotype correlations can improve patient diagnosis and management.
Cellular correction models offer potential therapeutic strategies for cystinosis.