A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia

Clinical Genetics

Volumn 53, Issue 3, 1998, Pages 205-209

  Hertz, Jens Michael ^a   Hansen, Karen Nørgaard ^b   Juncker, Inger ^a   Kjeldsen, Margrethe ^a   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b VIBORG HOSPITAL   (Denmark)

Author keywords

Ectodermal dysplasia; EDA gene; Hypohidrotic; Missense mutation; SSCP

Indexed keywords

MEMBRANE PROTEIN;

ANHIDROSIS; ARTICLE; CHROMOSOME MAP; CHROMOSOME XQ; CLINICAL ARTICLE; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; HAIR FOLLICLE; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; HYPOTRICHOSIS; KERATINOCYTE; MALE; MISSENSE MUTATION; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE STRAND CONFORMATION POLYMORPHISM; SWEAT GLAND; X CHROMOSOME LINKAGE;

EID: 0031892339     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02678.x     Document Type: Article

References (11)

1. Clarke A. Hypohidrotic ectodermal dysplasia J Med Genet 1987: 24: 659-663.
2. Zonana J, Clarke A, Sarfarazi M, et al. X-linked hypohidrotic ectodermal dysplasia: localization within the Region Xq11-q21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet 1988: 43: 75-85.
3. Turleau C, Niaudet P, Cabanis M-O, Plessis G, Cau D, De Grouchy J. X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet 1989: 35: 462-466.
4. Kølvraa S, Kruse TA, Jensen PKA, Linde KH, Vestergaard SR, Bolund L. Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12. Hum Genet 1986: 74: 284-287.
5. Zonana J, Roberts SH, Thomas NST, Harper PS. Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation J Med Genet 1988: 25: 383-386.
6. Zonana J, Gault J, Davies KJP, et al. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. Am J Hum Genet 1993: 52: 78-84.
7. Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein Nature Genet 1996: 13: 409-416.
8. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993: 16: 325-332.
9. Hultman T, Ståhl S, Hornes E, Uhlén M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads and solid support. Nucleic Acid Res 1989: 17: 4937-4946.
10. Jensen HK, Jensen TG, Jensen LG, et al. Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia. Hum Mutat 1994: 4: 102-113.
11. Pinheiro M, Ideriha MT, Chautard-Freire-Maia EA, Freire-Maia N, Primo-Parmo SL. Christ-Siemens-Touraine syndrome. Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers. Hum Genet 1981: 57: 428-431.