DeSanctis–Cacchione syndrome

DeSanctis–Cacchione syndrome
DeSanctis–Cacchione syndrome
Classification and external resources
OMIM 278800
DiseasesDB 29880

DeSanctis–Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with microcephaly, progressive mental retardation, retarded growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis.[1]

Genetics

In at least some case, the gene lesion involves a mutation in the CSB gene.[2]

It can be associated with ERCC6.[3]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ http://hmg.oxfordjournals.org/cgi/content/full/9/8/1171?view=long&pmid=10767341
  3. ^ Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M (May 2000). "Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum". Hum. Mol. Genet. 9 (8): 1171–5. doi:10.1093/hmg/9.8.1171. PMID 10767341. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=10767341. 
v · d · eMetabolic disease: DNA replication and DNA repair-deficiency disorder
DNA replication

Separation/initiation: RNASEH2A (Aicardi–Goutières syndrome 4)

Termination/telomerase: DKC1 (Dyskeratosis congenita)
DNA repair
Cockayne syndrome/DeSanctis–Cacchione syndrome · Thymine dimer (Xeroderma pigmentosum) · IBIDS syndrome
Other
see also DNA replication, DNA repair
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk



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