Cystinosis Inheritance
Cystinosis is an autosomal recessive disorder associated with >100 mutations in the CTNS gene that are known to lead to defective function or absence of the cystine transporter cystinosin.1-4 The wide variety of mutations accounts for the broad spectrum of symptoms.4-6
Cystinosis Inheritance Patterns7
Understand How the Transport
Process Is Impaired
Learn About Diagnosing and
Managing Cystinosis
CTNS, cystinosin, lysosomal cystine transporter.
References
1. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis. 2016;11:47. Published April 22, 2016. 2. Brodin-Sartorius A, Tête MJ, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81(2):179-189. 3. Goodyer P. The history of cystinosis: lessons for clinical management. Int J Nephrol. 2011;2011:929456. 4. Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ. Molecular mechanisms and treatment options of nephropathic cystinosis. Trends Mol Med. 2021;27(7):673-686. 5. Anikster Y, Lucero C, Guo J, et al. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res. 2000;47(1):17-23. 6. Thoene J, Lemons R, Anikster Y, et al. Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab. 1999;67(4):283-293. 7. Cystinosis Research Network. Cystinosis Parent Handbook. Accessed April 2021. https://www.cystinosis.org/wp-content/uploads/2019/01/CRN_ParentHandbook_FINAL_web.pdf