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Thymidine to Cytosine Transition Abnormality

MedGen UID:
318260
•Concept ID:
C1710405
•
Cell or Molecular Dysfunction
Synonyms: Thymidine to Cytosine Mutation; Thymidine to Cytosine Transition

Definition

A point mutation involving the substitution of Cytosine (a pyrimidine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThymidine to Cytosine Transition Abnormality

Recent clinical studies

Etiology

A polymorphism of the endothelial nitric oxide synthase promoter is associated with an increase in autonomic imbalance in patients with congestive heart failure.
Binkley PF, Nunziatta E, Liu-Stratton Y, Cooke G
Am Heart J 2005 Feb;149(2):342-8. doi: 10.1016/j.ahj.2004.05.059. PMID: 15846275

Diagnosis

Novel compound heterozygous AIRE mutations in a Japanese patient with APECED.
Sato U, Horikawa R, Katsumata N, Asakura Y, Kitanaka S, Tanaka T
J Pediatr Endocrinol Metab 2004 Jun;17(6):917-21. doi: 10.1515/jpem.2004.17.6.917. PMID: 15270412
Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients.
Severin DM, Leong T, Cassidy B, Elsaleh H, Peters L, Venter D, Southey M, McKay M
Int J Radiat Oncol Biol Phys 2001 Aug 1;50(5):1323-31. doi: 10.1016/s0360-3016(01)01608-x. PMID: 11483345
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM
Arch Ophthalmol 1994 Dec;112(12):1574-9. doi: 10.1001/archopht.1994.01090240080029. PMID: 7993212

Therapy

Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients.
Severin DM, Leong T, Cassidy B, Elsaleh H, Peters L, Venter D, Southey M, McKay M
Int J Radiat Oncol Biol Phys 2001 Aug 1;50(5):1323-31. doi: 10.1016/s0360-3016(01)01608-x. PMID: 11483345

Prognosis

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
Pagani F, Zagato L, Merati G, Paone G, Gridelli B, Maier JA
Hum Mol Genet 1994 Sep;3(9):1605-9. doi: 10.1093/hmg/3.9.1605. PMID: 7833918

Clinical prediction guides

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
Pagani F, Zagato L, Merati G, Paone G, Gridelli B, Maier JA
Hum Mol Genet 1994 Sep;3(9):1605-9. doi: 10.1093/hmg/3.9.1605. PMID: 7833918

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