The Genetics of Ectodermal Dysplasia: A review

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Review Paper 01/05/2019
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The Genetics of Ectodermal Dysplasia: A review

Saliha Samiullah, Kifayat-ullah, Hina Ishtiaq
Int. J. Biosci. 14(5), 389-393, May 2019.
Copyright Statement: Copyright 2019; The Author(s).
License: CC BY-NC 4.0

Abstract

Ectodermal dysplasia is permeated by defected development of ectodermal layer. This ectoderm forms the organs of embryo like skin, hair, nails, teeth and sweat glands. It is a heterogeneous type of genetic syndrome. The aim of this works is signaling and morphogenesis of ectodermal organs. About more than 180 various types of ectodermal dysplasia prevail. Ranging from forbearing to acute, almost all types dispense certain common sign and might involve irregular digit nails, fragile, scarce or lacking hair, denticle deformities, incapable to sweat and numerous skin diseases. Ectodermal dysplasia is caused by mutations in different types of genes. The divergent kinds of hereditament patterns ascertain, depends on the particular form of ectodermal dysplasia in a line include X-linked recessive, autosomal dominant, and autosomal recessive.

Ahmad F, Ahmad T, Umair M, Ahmad W. 2018. Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia. Congenital Anomalies. [Epub ahead of print]. https://doi.org/10.1111/cga.12307

Blake JA, Richardson JE, Bult CJ, Kadin JA, Eppig JT. 2002. The Mouse Genome Database, the model organism database for the laboratory mouse. Nucleic Acids Research 30, 113-115. https://doi.org/10.1093/nar/30.1.113

Bertola DR, Kim CA, Sugayama SMM, Albano LMJ, Utagawa CY, Gonzalez CH. 2000. AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasia’s. Pediatric Dermatology 17(3), 218-221. https://doi.org/10.1046/j.1525-1470.2000.01756.x

Chuong CM, Hou L, Chen PJ, Wu P, Patel N, Chen Y. 2001. Dinosaur’s feather and chicken’s tooth? Tissue engineering of the integument. European Journal of Dermatology 11(4), 286.

Cui CY, Klar J, Georgii-Heming P, Fröjmark AS, Baig SM, Schlessinger D, Dahl N. 2013. Frizzled6 deficiency disrupts the differentiation process of nail development. Journal of Investigative Dermatology 133(8), 1990-1997. https://doi.org/10.1038/jid.2013.84

Deshmukh S, Prashanth S. 2012. Ectodermal Dysplasia: A Genetic Review. International Journal Clinical Pediatrics Dentistry 3, 197-202. http://dx.doi.org/10.5005/jp-journals-10005-1165

Itin PH, Fistarol SK. 2004. Ectodermal dysplasias. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics 131(1), 45-51. https://doi.org/10.1002/ajmg.c.30033

Kaercher T. 2004. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefe’s Archive for Clinical and Experimental Ophthalmology 242(6), 495-500. http://dx.doi.org/10.1007/s00417-004-0868-0

Laurikkala J, Pispa J, Jung HS, Nieminen P, Mikkola M, Wang X, Thesleff I. 2002. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 129(10), 2541-2553.

Mikkola ML, Thesleff I. 2003. Ectodysplasin signaling in development. Cytokine & Growth Factor Reviews 14(3-4), 211-224.

Pispa J, Thesleff I. 2003. Mechanisms of ectodermal organogenesis. Developmental Biology 262(2), 195-205. https://doi.org/10.1016/S0012-1606(03)00325-7

Rouse C, Siegfried E, Breer W, Nahass G. 2004. Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. Archives of Dermatology 140(7), 850-855. http://dx.doi.org/10.1001/archderm.140.7.850

Thesleff I, Mikkola ML. 2002. Death receptor signaling giving life to ectodermal organs. Science Signaling 131, pe22. http://dx.doi.org/10.1126/stke.2002.131.pe22

Tucker A, Sharpe P. 2004. The cutting-edge of mammalian development; how the embryo makes teethNature Reviews Genetics 5(7), 499-508.

Yang R, Hu ZL, Kong QT, Li WW, Zhang LL, Du X, Sang H. 2016. A known mutation in GJB 6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology 30(8), 1362-1365. https://doi.org/10.1111/jdv.13600

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