Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 906-911

  Lin, Zhimiao ^a   Chen, Quan ^a   Shi, Lei ^b   Lee, Mingyang ^a   Giehl, Kathrin A ^c   Tang, Zhanli ^d   Wang, Huijun ^a   Zhang, Jie ^a   Yin, Jinghua ^a   Wu, Lingshen ^a   Xiao, Ruo ^e   Liu, Xuanzhu ^e   Dai, Lanlan ^e   Zhu, Xuejun ^a   Li, Ruoyu ^a   Betz, Regina C ^f   Zhang, Xue ^b   Yang, Yong ^a,g  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d QINGDAO UNIVERSITY MEDICAL COLLEGE   (China)

^e BGI SHENZHEN   (China)

^f UNIVERSITY OF BONN   (Germany)

^g Tsinghua University   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ACTIN; CYTOKERATIN; FOXN1 PROTEIN; HOMEODOMAIN PROTEIN; HOXC13 PROTEIN; KRT35 PROTEIN; KRT85 PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHINESE; ECTODERMAL DYSPLASIA; EXON; GENE EXPRESSION; GENE SEQUENCE; HAIR DISEASE; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; NAIL DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PURE HAIR AND NAIL ECTODERMAL DYSPLASIA; SKIN CULTURE;

ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CONSANGUINITY; ECTODERMAL DYSPLASIA; EXOME; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; HYPOTRICHOSIS; MALE; MICE; MICE, TRANSGENIC; NAIL DISEASES; PEDIGREE; PHENOTYPE; SKIN;

MUS;

EID: 84868495913     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.029     Document Type: Article

References (36)

1. A.F. Visinoni, T. Lisboa-Costa, N.A. Pagnan, and E.A. Chautard-Freire-Maia Ectodermal dysplasias: Clinical and molecular review Am. J. Med. Genet. A. 149A 2009 1980 2002
2. A.D. Irvine Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges Am. J. Med. Genet. A. 149A 2009 1970 1972
3. P. Calzavara-Pinton, A. Carlino, A. Benetti, and G. De Panfilis Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia Dermatologica 182 1991 184 187
4. M. Naeem, M. Wajid, K. Lee, S.M. Leal, and W. Ahmad A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type J. Med. Genet. 43 2006 274 279
5. Y. Shimomura, M. Wajid, M. Kurban, N. Sato, and A.M. Christiano Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia J. Invest. Dermatol. 130 2010 892 895
6. M. Pinheiro, and N. Freire-Maia Hair-nail dysplasia - A new pure autosomal dominant ectodermal dysplasia Clin. Genet. 41 1992 296 298
7. M. Barbareschi, S. Cambiaghi, A.C. Crupi, and G. Tadini Family with "pure" hair-nail ectodermal dysplasia Am. J. Med. Genet. 72 1997 91 93
8. S. Harrison, and R. Sinclair Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia Australas. J. Dermatol. 45 2004 103 105
9. L. Langbein, M.A. Rogers, H. Winter, S. Praetzel, and J. Schweizer The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins J. Biol. Chem. 276 2001 35123 35132
10. C. Perrin, L. Langbein, and J. Schweizer Expression of hair keratins in the adult nail unit: An immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed Br. J. Dermatol. 151 2004 362 371
11. M. Naeem, P. John, G. Ali, and W. Ahmad Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family Clin. Exp. Dermatol. 32 2007 502 505
12. M. Rasool, S. Nawaz, A. Azhar, M. Wajid, P. Westermark, S.M. Baig, J. Klar, and N. Dahl Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation Eur. J. Dermatol. 20 2010 443 446
13. M. Naeem, M. Jelani, K. Lee, G. Ali, M.S. Chishti, A. Wali, A. Gul, P. John, M.J. Hassan, S.M. Leal, and W. Ahmad Ectodermal dysplasia of hair and nail type: Mapping of a novel locus to chromosome 17p12-q21.2 Br. J. Dermatol. 155 2006 1184 1190
14. Z. Lin, Q. Chen, M. Lee, X. Cao, J. Zhang, D. Ma, L. Chen, X. Hu, H. Wang, and X. Wang Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome Am. J. Hum. Genet. 90 2012 558 564
15. P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat. Protoc. 4 2009 1073 1081
16. H.L. Park, C. Bai, K.A. Platt, M.P. Matise, A. Beeghly, C.C. Hui, M. Nakashima, and A.L. Joyner Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation Development 127 2000 1593 1605
17. M. Nilsson, A.B. Undèn, D. Krause, U. Malmqwist, K. Raza, P.G. Zaphiropoulos, and R. Toftgård Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1 Proc. Natl. Acad. Sci. USA 97 2000 3438 3443
18. A.E. Oro, and K. Higgins Hair cycle regulation of Hedgehog signal reception Dev. Biol. 255 2003 238 248
19. A.R. Godwin, and M.R. Capecchi Hoxc13 mutant mice lack external hair Genes Dev. 12 1998 11 20
20. S. Imbeaud, C. Belville, L. Messika-Zeitoun, R. Rey, N. di Clemente, N. Josso, and J.Y. Picard A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome Hum. Mol. Genet. 5 1996 1269 1277
21. L. Pick, and A. Heffer Hox gene evolution: Multiple mechanisms contributing to evolutionary novelties Ann. N Y Acad. Sci. 1256 2012 15 32
22. M.A. Tischfield, T.M. Bosley, M.A. Salih, I.A. Alorainy, E.C. Sener, M.J. Nester, D.T. Oystreck, W.M. Chan, C. Andrews, R.P. Erickson, and E.C. Engle Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development Nat. Genet. 37 2005 1035 1037
23. B.D. Webb, S. Shaaban, H. Gaspar, L.F. Cunha, C.R. Schubert, K. Hao, C.D. Robson, W.M. Chan, C. Andrews, and S. MacKinnon HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice Am. J. Hum. Genet. 91 2012 171 179
24. D.P. Mortlock, and J.W. Innis Mutation of HOXA13 in hand-foot-genital syndrome Nat. Genet. 15 1997 179 180
25. Y. Muragaki, S. Mundlos, J. Upton, and B.R. Olsen Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 Science 272 1996 548 551
26. X. Zhao, M. Sun, J. Zhao, J.A. Leyva, H. Zhu, W. Yang, X. Zeng, Y. Ao, Q. Liu, and G. Liu Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome Am. J. Hum. Genet. 80 2007 361 371
27. A. Awgulewitsch Hox in hair growth and development Naturwissenschaften 90 2003 193 211
28. A.V. Tkatchenko, R.P. Visconti, L. Shang, T. Papenbrock, N.D. Pruett, T. Ito, M. Ogawa, and A. Awgulewitsch Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia Development 128 2001 1547 1558
29. L.F. Jave-Suarez, H. Winter, L. Langbein, M.A. Rogers, and J. Schweizer HOXC13 is involved in the regulation of human hair keratin gene expression J. Biol. Chem. 277 2002 3718 3726
30. A.R. Godwin, and M.R. Capecchi Hair defects in Hoxc13 mutant mice J. Investig. Dermatol. Symp. Proc. 4 1999 244 247
31. C.S. Potter, N.D. Pruett, M.J. Kern, M.A. Baybo, A.R. Godwin, K.A. Potter, R.L. Peterson, J.P. Sundberg, and A. Awgulewitsch The nude mutant gene Foxn1 is a HOXC13 regulatory target during hair follicle and nail differentiation J. Invest. Dermatol. 131 2011 828 837
32. C.S. Potter, R.L. Peterson, J.L. Barth, N.D. Pruett, D.F. Jacobs, M.J. Kern, W.S. Argraves, J.P. Sundberg, and A. Awgulewitsch Evidence that the satin hair mutant gene Foxq1 is among multiple and functionally diverse regulatory targets for Hoxc13 during hair follicle differentiation J. Biol. Chem. 281 2006 29245 29255
33. R.L. Peterson, T.V. Tkatchenko, N.D. Pruett, C.S. Potter, D.F. Jacobs, and A. Awgulewitsch Epididymal cysteine-rich secretory protein 1 encoding gene is expressed in murine hair follicles and downregulated in mice overexpressing Hoxc13 J. Investig. Dermatol. Symp. Proc. 10 2005 238 242
34. N.D. Pruett, T.V. Tkatchenko, L. Jave-Suarez, D.F. Jacobs, C.S. Potter, A.V. Tkatchenko, J. Schweizer, and A. Awgulewitsch Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13 J. Biol. Chem. 279 2004 51524 51533
35. H. Bazzi, S. Demehri, C.S. Potter, A.G. Barber, A. Awgulewitsch, R. Kopan, and A.M. Christiano Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation Differentiation 78 2009 292 300
36. J. Frank, C. Pignata, A.A. Panteleyev, D.M. Prowse, H. Baden, L. Weiner, L. Gaetaniello, W. Ahmad, N. Pozzi, and P.B. Cserhalmi-Friedman Exposing the human nude phenotype Nature 398 1999 473 474