A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

Journal of Biomedical Research

Volumn 25, Issue 1, 2011, Pages 49-55

  Wu, Jin ^a   Lin, Yongli ^a   Xu, Wenrong ^a   Li, Zhongming ^a   Fan, Weixin ^a  

^a THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Hair diseases; HHB6; Keratin; Monilethrix; Mutation

Indexed keywords

KERATIN; KERATIN 81; KERATIN 83; KERATIN 86; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MONILETHRIX; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCANNING ELECTROCHEMICAL MICROSCOPY; SCHOOL CHILD;

EID: 79951762304     PISSN: 16748301     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1674-8301(11)60006-7     Document Type: Article

References (29)

1. Richard G, Itin P, Lin JP, Bon A, Bale SJ Evidence for genetic heterogeneity in monilethrix. J Invest Dermatol 1996, 107:812-814.
2. Schweizer J More than one gene involved in monilethrix: intracellular but also extracellular players. J Invest Dermatol 2006, 126:1216-1219.
3. Smith WG A rare nodose condition of the hair. Brit Med J 1879, 2:291-296.
4. Heydt GE Zur Kenntnis der Monilethrix. Arch Klin Exp Derm 1963, 217:15-29.
5. Langbein L, Schweizer J Keratins of the human hair follicle. Int Rev Cytol 2005, 243:1-78.
6. Baker H An investigation of monilethrix. Br J Dermatol 1962, 74:24-30.
7. Rogers MA, Winter H, Langbein L, Wolf C, Schweizer J Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. J Invest Dermatol 2000, 114:464-472.
8. Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, et al. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997, 101:165-169.
9. Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. Hum Hered 2000, 50:325-330.
10. van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005, 42:e19.
11. Healy E, Holmes SC, Belgaid CE, Stephenson AM, McLean WHI, Rees J, et al. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. Hum Mol Genet 1995, 4:2399-2402.
12. Stevens HP, Keisell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK, et al. Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-13. J Invest Dermatol 1996, 106:795-805.
13. Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997, 16:372-374.
14. Smith FJD The molecular genetics of keratin disorders. Am J Clin Dermatol 2003, 4:347-364.
15. Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J Monilethrix: a novel mutation (Glu-402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix termination motif of the type II hair keratin hHb6. J Invest Dermatol 1999, 113:263-266.
16. Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, et al. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol 1999, 113:607-612.
17. Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. Hum Hered 2000, 50:322-324.
18. Pearce EG, Smith SK, Lanigan SW, Bowden PE Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. J Invest Dermatol 1999, 113:1123-1127.
19. Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, et al. De novo mutations in monilethrix. Exp Dermatol 2003, 12:882-885.
20. Zhang SD, Meng J, Zhao JJ, Tian W Mutation E402K of the hHb6 in a Chinese Han family with monilethrix. Eur J Dermatol 2009, 19:508-509.
21. Deng YH, Shu KL, Li H Detection of Mutation of Type II Hair Keratin Gene in a Han Family of Monilethrix. Acta Med Univ Sci Technol Huazhong 2007, 3:392.
22. Feng AP, Liu P, Yang T Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (in Chinese) 2008, 25:141-144.
23. Li JG, Li ZL, Wang YP Detection of gene mutation in a pedigree with monilethrix. Chin J Dermatol (in Chinese) 2006, 7:374-376.
24. Zlotogorski A, Horev L, Glaser B Monilethrix: a keratin hHb6 mutation is co dominant with variable expression. Exp Dermatol 1998, 7:268-272.
25. Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, et al. A mutational hotspot in the 2B domain of human hair basic keratin 6 in monilethrix patients. J Invest Dermatol 1998, 111:896-899.
26. Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix. Dermatology 2003, 206:338-340.
27. Khandpur S, Bairwa NK, Reddy BS, Bamezai R A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. Annales de Génétique 2004, 47:77-84.
28. Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, et al. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type 2 hair keratin hHb1. J Invest Dermatol 1998, 111:169-172.
29. Oshimura E, Ino M Effects of arginine on hair damage via oxidative coloring process. J Cosmet Sci 2004, 55(Suppl):S155-S170.