A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia [14]

British Journal of Dermatology

Volumn 157, Issue 1, 2007, Pages 207-209

  Tariq, M ^a   Wasif, N ^a   Ahmad, W ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A;

ANHIDROSIS; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1Q; CHROMOSOME XQ; ECTODERMAL DYSPLASIA; FAMILIAL DISEASE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERPIGMENTATION; LETTER; LIP MALFORMATION; NOSE MALFORMATION; PAKISTAN; PRIORITY JOURNAL; SCANTY HAIR; X CHROMOSOME LINKAGE;

ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; EDAR RECEPTOR; FEMALE; GENE DELETION; HUMANS; MALE; PAKISTAN; PEDIGREE;

EID: 34250612568     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.07949.x     Document Type: Letter

References (10)

1. Kere J, Strivastava AK, Montonen O et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996 13 : 409 16.
2. Monreal AW, Ferguson BM, Headon DJ et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999 22 : 366 9.
3. Headon DJ, Overbeek PA. Involvement of a novel TNF receptor homologue in hair follicle induction. Nat Genet 1999 22 : 370 4.
4. Headon DJ, Emmal SA, Ferguson BM et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nat Genet 2001 414 : 913 16.
5. Morlon A, Munnich A, Smahi A. TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd. Hum Mol Genet 2005 14 : 3751 7.
6. Shimomura Y, Sato N, Miyashita A et al. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. J Invest Dermatol 2004 123 : 649 55.
7. Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol 2005 15 : 346 50.
8. Chassaing N, Bourthoumieu S, Cossee M et al. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 2006 27 : 255 9.
9. Smith CA, Farrah T, Goodwin RG. The TNF receptor superfamily of cellular and viral proteins: activation, costimulation, and death. Cell 1994 76 : 959 62.
10. Banner DW, D'Arcy A, Janes W et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 1993 73 : 431 45.