Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix

Journal of Investigative Dermatology

Volumn 113, Issue 6, 1999, Pages 1123-1127

  Pearce, Eve G ^a   Smith, S Kaye ^a   Lanigan, Sean W ^b   Bowden, Paul E ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b PRINCESS OF WALES HOSPITAL   (United Kingdom)

Author keywords

Gene mutation; Hair disease; Human; Intermediate filaments

Indexed keywords

GLUTAMIC ACID; KERATIN; LYSINE;

ALOPECIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CODON; CONTROLLED STUDY; FEMALE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MONILETHRIX; PENETRANCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCANNING ELECTRON MICROSCOPY;

EID: 0033396625     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00777.x     Document Type: Article

References (33)

1. Alexander J O'D, Grant PW: Monilethrix. Report of three cases with extensive family history. Scot Med J 3:356-360, 1958
2. Bowden PE. Keratins and other epidermal proteins. In: Priestly GC (ed.) Molecular Aspects of Dermatology, Chapter 2. Chichester: John Wiley, 1993, pp 19-54
3. Bowden PE, Stark HJ, Breitkreutz D, Fusenig NE: Expression and modification of keratins during terminal differentiation of mammalian epidermis. In: Current Topics in Developmental Biology, ed. RH Sawyer, Volume 20, Chapter 3. Orlando: Academic Press, 1987, pp 35-68
4. Bowden PE, Hainey S, Parker G, Jones DO, Zimonjic D, Popescu NC, Hodgins MB: Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle. J Invest Dermatol 110:158-164, 1998
5. Cockayne EA: Inherited Abnormalities of the Skin and its Appendages. Oxford: Oxford University Press, 1933, p 394
6. Corden LD, McLean WHI: Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307, 1996
7. Fink P, Rogers MA, Korge B, Winter H, Schweizer J: A cDNA encoding the human type I hair keratin hHa1. Biochim Biophy Acta 1264:12-14, 1995
8. Fuchs E, Cleveland DW: A structural scaffolding of intermediate filaments in health and disease. Science 279:514-519, 1998
9. Gummer CL, Dawber RPR, Swift JA: Monilethrix: an electron microscopic and electron histochemical study. Br J Dermatol 105:529-541, 1981
10. Healy E, Holmes SC, Belgraid CE, Stephenson AM, McLean WHI, Rees JL, Munro CS: A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. Hum Mol Genet 4:2399-2402, 1995
11. Heid HW, Moll I, Franke WW: Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues. I. Human and bovine hair follicles. Differentiation 37:137-157, 1988a
12. Heid HW, Moll I, Franke WW: Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues. II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum). Differentiation 37:215-230, 1988b
13. Holliday R, Grigg GW: DNA methylation and mutation. Mutat Res 285:61-67, 1993
14. Irvine AD, Corden LD, Swensson O, et al: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nature Genet 16:184-187, 1997
15. Ito M, Hashimoto K, Yorder FW: Monilethrix: an ultrastructural study. J Cutan Pathol 11:513-521, 1984
16. Ito M, Hashimoto K, Katsuumi K, Sato Y: Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 95:186-194, 1990
17. Jones DO, Watts C, Mills C, Sharpe G, Marks R, Bowden PE: A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol 108:354-356, 1997
18. Korge BP, Healy E, Munro CS, et al: A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 111:896-899, 1998
19. McKee GM, Rosen I: Monilethrix. A clinical and histological study with a report of six cases and a review of the literature. J Cutan Dis Syph 34 (444-59):506-526, 1916
20. Rogers MA, Nischt R, Korge B, et al: Sequence data and chromosomal localization of human type I and type II hair keratin genes. Exp Cell Res 220:357-362, 1995a
21. Rogers MA, Schweizer J, Kreig T, Winter H: A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms. Mol Biol Rep 20:155-161, 1995b
22. Rogers MA, Winter H, Langbein L, Kreig T, Schweizer J: Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5. J Invest Dermatol 107:633-638, 1996
23. Rogers MA, Langbein L, Practzel S, Moll I, Kreig T, Winter H, Schweizer J: Sequences and differential expression of three novel human type II hair keratins. Differentiation 61:187-194, 1997
24. Rogers MA, Winter H, Wolf C, Heck M, Schweizer J: Characterisation of a 190-kilobase pair domain of human type I hair keratin genes. J Biol Chem 273:26683-26691, 1998
25. Rosenthal A, Coutelle O, Craxton M: Production of DNA sequencing templates by microtitre format PCR. Nucleic Acids Res 21:173-174, 1993
26. Rothnagel JA: The role of keratin mutations in disorders of the skin. Curr Opin Dermatol 3:127-136, 1996
27. Rothnagel JA, Dominey AM, Dempsey LD, et al: Mutations in the rod domains of keratim 1 and 10 in epidermolytic hyperkeratosis. Sci 257:1128-1130, 1992
28. Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP: Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 108:349-353, 1997
29. Stevens HP, Kelsell DP, Bryant SP, Bishop T, Dawber RPR, Spurr NK, Leigh IM: Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. J Invest Dermatol 106:795-797, 1996
30. Winter H, Rogers MA, Gebhardt M, et al: A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 101:165-169, 1997a
31. Winter H, Rogers M, Langbein L, et al: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genet 16:372-374, 1997b
32. Winter H, Labrèze C, Chapalain V, Bazeille JES, Mercier M, Rogers MA, Taieb A, Schweizer J: A variable monilethrix phenotype associated with a novel mutation, glu402lys, in the helix termination motif of the type II hair keratin hHb1. J Invest Dermatol 111:169-172, 1998
33. Zlotogorski A, Horev L, Glaser B: Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression. Exp Dermatol 7:268-271, 1998