More than one gene involved in monilethrix: Intracellular but also extracellular players

Journal of Investigative Dermatology

Volumn 126, Issue 6, 2006, Pages 1216-1219

  Schweizer, Jurgen ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; DESMOGLEIN; DESMOGLEIN 4; KERATIN; UNCLASSIFIED DRUG; DSG4 PROTEIN, HUMAN;

AUTOSOMAL DOMINANT DISORDER; DESMOGLEIN 4 GENE; GENE; GENE EXPRESSION; GENE MUTATION; HAIR DISEASE; HAIR FOLLICLE; HUMAN; HYPOTRICHOSIS; MONILETHRIX; MULTIGENE FAMILY; NONHUMAN; PRIORITY JOURNAL; REVIEW; VERTICAL TRANSMISSION; ANIMAL; ARTICLE; GENETICS; METABOLISM; MOUSE; MUTATION; RAT;

ANIMALS; DESMOGLEINS; GENES; HAIR DISEASES; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; MICE; MUTATION; RATS;

EID: 33745564261     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700266     Document Type: Note

References (19)

1. Bazzi H, Kljuic A, Christiano M, Pantelejev AA (2004) Intragenic deletion in the desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Differentiation 72:450-64
2. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD et al. (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141-2
3. Hanhart E (1955) Erstmaliger Hinweis auf das Vorkommen eines monohybrid-rezessiven Erbgangs bei Monilethrix (Moniletrichosis). Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg 30:1-11
4. Jahoda CAB, Kljuic A, O'Shaughnessy R, Crossley N, Whitehouse CJ, Robinson M et al. (2004) The lanceolate hair rat phenotype results from a missense mutation in a calcium-coordinating site of the desmoglein 4 gene. Genomics 83:747-56
5. Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG et al. (2003) Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249-60
6. Langbein L, Schweizer J (2005) Keratins of the human hair follicle. Int Rev Cytol 243:1-78
7. McGrath JA, Wessagowit V (2005) Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med 54:72-9
8. Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM (2005) A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 125:1077-9
9. Meyer B, Bazzi H, Zidek V, Musilova A, Kurtz TW, Nurnberg P et al. (2004) A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Differentiation 72:541-7
10. Montagutelli X, Hogan ME, Aubin G, Lalouette A, Guénet JL, King LE et al. (1996) Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 107:20-5
11. Moss C, Martinez-Mir A, Lam H, Tadin-Straps M, Kljuic A, Christiano AM (2004) A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 123:607-9
12. Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM et al. (2004) A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol 123:247-8
13. Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-ul-Haque M et al. (2003) A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. Eur J Hum Genet 11:623-8
14. Richard G, Itin P, Lin JP, Bon A, Bale S (1996) Evidence for genetic heterogeneity in monilethrix. J Invest Dermatol 107:812-4
15. Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H et al. (2006) Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol 126:1286-91
16. Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M (2006) Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol 126:1281-85
17. J): a mouse model for human hair disorders. Exp Dermatol 9:206-18
18. van Steensel MAM, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M (2005) A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 42:e19
19. Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L et al. (2006) An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol 126:1292-6