Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2424-2432

  Burger, Kristin ^a   Schneider, Anne Theres ^a   Wohlfart, Sigrun ^a   Kiesewetter, Franklin ^a   Huttner, Kenneth ^b   Johnson, Ramsey ^b   Schneider, Holm ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b Edimer Pharmaceuticals Inc   (United States)

Author keywords

Ectodysplasin; EDA; Genotype phenotype correlation; Hair; Hypohidrotic ectodermal dysplasia; Sweat glands

Indexed keywords

PILOCARPINE;

ADOLESCENT; ARTICLE; CHILD; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE SEVERITY; ECTODERMAL DYSPLASIA; EDA GENE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAIR ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; SWEATING; X LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA; ANHIDROSIS; CASE CONTROL STUDY; GENETIC ASSOCIATION; GENETICS; GENOTYPE; HAIR; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES; SKIN; SWEAT GLAND;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; GENETIC ASSOCIATION STUDIES; GENOTYPE; HAIR; HUMANS; HYPOHIDROSIS; MALE; MUTATION; SKIN; SWEAT GLANDS; SWEATING;

EID: 84908259734     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36541     Document Type: Article

References (29)

1. Blüschke G, Nüsken KD, Schneider H. 2010. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum Dev 86:397-399.
2. Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. 2007. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81:1050-1056.
3. Chamberlain AJ, Dawber RP. 2003. Methods of evaluating hair growth. Australas J Dermatol 44:10-18.
4. Clarke A, Phillips DI, Brown R, Harper PS. 1987. Clinical aspects of Xlinked hypohidrotic ectodermal dysplasia. Arch Dis Child 62:989-996.
5. Cluzeau C, Hadj-Rabia S, Bal E, Clauss F, Munnich A, Bodemer C, Headon D, Smahi A. 2012. The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation. Br J Dermatol 166:678-681.
6. Cui CY, Kunisada M, Esibizione D, Douglass EG, Schlessinger D. 2009. Analysis of the temporal requirement for eda in hair and sweat gland development. J Invest Dermatol 129:984-993.
7. Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H. 2013. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 172:1023-1031.
8. Ezer S, Bayés M, Elomaa O, Schlessinger D, Kere J. 1999. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 8:2079-2086.
9. Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K. 2008. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17:835-843.
10. Gaide O, Schneider P. 2003. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 9:614-618.
11. Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, Tung JY, Eriksson N, Redler S, Betz RC, Li R, Kárason A, Nyholt DR, Song K, Vermeulen SH, Kanoni S, Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Richards JB, Becker T, Brockschmidt FF, Hinds DA, Nöthen MM. 2013. Androgenetic alopecia: Identification of four genetic risk loci and evidence for the contribution of WNT-signaling to its etiology. J Invest Dermatol 133:1489-1496.
12. Hirano SA, Mason AR, Salkey K, Williams JV, Pariser DM. 2012. Light microscopic hair shaft analysis in ectodermal dysplasia syndromes. Pediatr Dermatol 29:414-420.
13. Itin PH, Fistarol SK. 2004. Ectodermal dysplasias. Am J Med Genet Part C 131C:45-51.
14. Jones KB, Goodwin AF, Landan M, Seidel K, Tran DK, Hogue J, Chavez M, Fete M, Yu W, Hussein T, Johnson R, Huttner K, Jheon AH, Klein OD. 2013. Characterization of X-linked hypohidrotic ectodermal dysplasia (XLHED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. Am J Med Genet Part A 161A:1585-1593.
15. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, dela Chapelle A, Schlessinger D. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416.
16. Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak WH. 2001. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. Am J Med Genet 100:191-197.
17. Kowalczyk C, Dunkel N, Willen L, Casal ML, Mauldin EA, Gaide O, Tardivel A, Badic G, Etter AL, Favre M, Jefferson DM, Headon DJ, Demotz S, Schneider P. 2011. Molecular and therapeutic characterization of anti-ectodysplasin Areceptor (EDAR) agonist monoclonal antibodies. J Biol Chem 286:30769-30779.
18. Li S, Li J, Cheng J, Zhou B, Tong X, Dong X, Wang Z, Hu Q, Chen M, Hua ZC. 2008. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutation in the TNF domain of EDA (ectodysplasin A). PLoS ONE 3:e2396.
19. Mauldin E, Gaide O, Schneider P, Casal M. 2009. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with Xlinked ectodermal dysplasia. Am J Med Genet Part A 149A:2045-2049.
20. Mikkola ML, Millar SE. 2006. The mammary bud as a skin appendage: Unique and shared aspects of development. J Mammary Gland Biol Neoplasia 11:187-203.
21. Mikkola ML. 2009. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet Part A 149A:2031-2036.
22. Mosteller RD. 1987. Simplified calculation of body-surface area. N Engl J Med 317:1098.
23. Mou C, Thomason HA, Willan PM, Clowes C, Harris WE, Drew CF, Dixon J, Dixon MJ, Headon DJ. 2008. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat 29:1405-1411.
24. Rouse C, Siegfried E, Breer W, Nahass G. 2004. Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: Further characterization. Arch Dermatol 140:850-855.
25. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, et al. 2007. Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918.
26. Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J. 2001. Mutations leading to Xlinked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 276:18819-18827.
27. Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A. 2011. Sweating ability and genotype in individuals with Xlinked hypohidrotic ectodermal dysplasia. J Med Genet 48:426-432.
28. Tanner BA. 1988. Psychological aspects of hypohidrotic ectodermal dysplasia. Birth Defects Orig Artic Ser 24:263-275.
29. Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI. 2007. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet Part A 143A:390-394.