Acro–dermato–ungual–lacrimal–tooth syndrome

Acro–dermato–ungual–lacrimal–tooth syndrome
Classification and external resources
OMIM 103285
DiseasesDB 32742

Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease.[1] ADULT syndrome is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities.[2] The syndrome arises from a mutation in the TP63 gene.[3] This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.[4]

Symptoms

ADULT syndrome features include ectrodactyly, syndactyly, excessive freckling, lacrimal duct anomalies, dysplastic nails, hypodontia, hypoplastic breasts and nipples, hypotrichosis, hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis.[5] The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome.

Cause

ADULT syndrome is due to autosomal dominant mutations of the TP63 gene, which encodes the p63 protein. TP63 mutations cause deformities because the p63 protein is critical in embryonic development of limbs and other ectodermal tissues. 7 mutations have been found, the commonest forms being R298Q and R243W, in which encoding for arginine is changed to glutamine at position 298 and tryptophan at position 243 respectively.[6][7] Other p63 genes mutation syndromes include ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) and Hay-Wells syndromes.

References

  1. ↑ Acro-. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=acro&submit.x=0&submit.y=0 Dermo-. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?id=D5151600 Lacrimcal. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=lacrimal&submit.x=0&submit.y=0 Ungual. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=ungual&submit.x=0&submit.y=0
  2. ↑ Berk, D. R., Armstrong, N. L., Shinawi, M., & Whelan, A. J. (2012). ADULT syndrome due to an R243W mutation in TP63. International Journal of Dermatology, 51(6), 693-696. doi:10.1111/j.1365-4632.2011.05375.x
  3. ↑ Chan, I., Harper, J. I., Mellerio, J. E., & McGrath, J. A. (2004). ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene Wiley-Blackwell. doi:10.1111/j.1365-2230.2004.01643.x
  4. ↑ Propping, P., Zerres, K. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am. J. Med. Genet. 45: 642-648, 1993. [PubMed: 8456838, related citations]
  5. ↑ Avitan-Hersh, E., Indelman, M., Bergman, R., & Sprecher, E. (2010). ADULT syndrome caused by a mutation previously associated with EEC syndrome Wiley-Blackwell. doi:10.1111/j.1525-1470.2010.01131.x
  6. ↑ Rinne, T., Spadoni, E., Kjaer, K. W., Danesino, C., Larizza, D., Kock, M., et al. (2006). Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. European Journal of Human Genetics, 14(8), 904-910. doi:10.1038/sj.ejhg.5201640
  7. ↑ Chan, I., Harper, J. I., Mellerio, J. E., & McGrath, J. A. (2004). ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene Wiley-Blackwell. doi:10.1111/j.1365-2230.2004.01643.x
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