Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family [5]

Journal of Investigative Dermatology

Volumn 127, Issue 7, 2007, Pages 1779-1782

  Wajid, Muhammad ^a   Bazzi, Hisham ^a   Rockey, Jonathan ^a   Lubetkin, Jillian ^a   Zlotogorski, Abraham ^b   Christiano, Angela M ^a  

^a Howard Hughes Medical Institute   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN; DESMOGLEIN 4; MESSENGER RNA; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE LOCATION; GENETIC VARIABILITY; HUMAN; HYPERKERATOSIS; HYPOTRICHOSIS; LETTER; MALE; MUTATIONAL ANALYSIS; PAKISTAN; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKIN EXAMINATION;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DESMOGLEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; HYPOTRICHOSIS; MALE; PAKISTAN; PEDIGREE; PHENOTYPE;

EID: 34250624022     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700791     Document Type: Letter

References (27)

1. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C et al. (2006) DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 79:136-42
2. Bazzi H, Kljuic A, Christiano AM, Christiano AM, Panteleyev AA (2004) Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Differentiation 72:450-64
3. Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK et al. (2006) Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 74:129-40
4. Boggon TJ, Murray J, Chappuis-Flament S, Wong E, Gumbiner BM, Shapiro L (2002) C-cadherin ectodomain structure and implications for cell adhesion mechanisms. Science 296:1308-13
5. Huber O (2003) Structure and function of desmosomal proteins and their role in development and disease. Cell Mol Life Sci 60:1872-90
6. Jahoda CA, 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
7. John P, Tariq M, Arshad Rafiq M, Amin-Ud-Din M, Muhammad D, Waheed I et al. (2006) Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res 298:135-7
8. Khajavi M, Inoue K, Lupski JR (2006) Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 14:1074-81
9. Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG et al. (2003a) Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113:249-60
10. Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A (2003b) A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 12:523-7
11. Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L et al. (1997) Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol 137:1091-102
12. Mahoney MG, Hu Y, Brennan D, Bazzi H, Christiano AM, Wahl JK (2006) Delineation of diversified desmoglein distribution in stratified squamous epithelia: implications in diseases. Exp Dermatol 15:101-9
13. McGrath JA, Wessagowit V (2005) Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med 54:72-9
14. Meyer B, Bazzi H, Zidek V, Musilova A, Pravenec M, Kurtz TW et al. (2004) A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Differentiation 72:541-7
15. 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
16. Moss C, Martinez-Mir A, Lam H, Tadin-Strapps M, Kljuic A, Christiano AM (2004) A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 123:607-10
17. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A et al. (2006) Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 113:1171-9
18. Pulkkinen L, Choi YW, Simpson A, Montagutelli X, Sundberg J, Uitto J et al. (2002) Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene. J Invest Dermatol 119:1237-43
19. 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
20. 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
21. Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP et al. (1999) N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971-6
22. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual. 2nd edn New York, NY: Cold Spring Harbor Laboratory Press
23. 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
24. Schweizer J (2006) More than one gene involved in monilethrix: intracellular but also extracellular players. J Invest Dermatol 126:1216-9
25. 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 126:1281-5
26. Sundberg JP, Boggess D, Bascom C, Limberg BJ, Shultz LD, Sundberg BA et al. (2000) Lanceolate hair-J (lahJ): a mouse model for human hair disorders. Exp Dermatol 9:206-18
27. 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