Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X- linked disorder

American Journal of Human Genetics

Volumn 61, Issue 1, 1997, Pages 94-100

  Munoz, F ^a   Lestringant, G ^b   Sybert, V ^c   Frydman, M ^d   Alswaini, A ^b   Frossard, P M ^b   Jorgenson, R ^e   Zonana, J ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b Ministry of Health United Arab Emirates   (United Arab Emirates)

^c UNIVERSITY OF WASHINGTON   (United States)

^d GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^e South Texas Genetics Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONSANGUINITY; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INFANT; MALE; PEDIGREE; PRIORITY JOURNAL; SIBLING; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 0030755074     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/513905     Document Type: Article

References (24)

1. Anton-Lamprecht I, Schleiermacher E, Wolf M (1988) Autosomal recessive anhidrotic ectodermal dysplasia: report of a case and discrimination of diagnostic features. Birth Defects 24:183-195
2. Blecher SR (1986) Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome). J Invest Dermatol 87:720-722
3. Browne DL, McMilin KD, Litt M (1993) Dinucleotide repeat polymorphism at the DXS1111 locus. Hum Mol Genet 2: 611
4. Clarke A, Phillips DI, Brown R, Harper PS (1987) Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 62:989-996
5. Crump IA, Danks DM (1971) Hypohidrotic ectodermal dysplasia: a study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. J Pediatr 78:466-473
6. Fain PR, Kort EN, Chance PF, Nguyen K, Redd DF, Econs MJ, Barker DF (1995) A 2D crossover-based map of the human X chromosome as a model for map integration. Nat Genet 9:261-266
7. Ferguson BM, Munoz F, Kere J, Srivastava AK, Zonana J (1996) Diagnostic utility of direct mutation analysis in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet Suppl 59:A258
8. Freire-Maia N, Pinheiro M (1982) Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia). Am J Hum Genet 34:672-674
9. Gorlin RJ, Old T, Anderson VE (1970) Hypohidrotic ectodermal dysplasia in females: a critical analysis and argument for genetic heterogeneity. Z Kinderheilkd 108:1-11
10. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, et al (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13:409-416
11. Kiss P, Torok E (1990) Autosomal recessive inheritance of hypohidrotic ectodermal dysplasia. Pediatr Dermatol 7:242
12. Limon J, Filipiuk J, Nedoszytko B, Mrozek K, Castren M, Larramendy M, Roszkiewicz J (1991) X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. Hum Genet 87:338-340
13. MacDermot KD, Hulten M (1990) Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation: clinical documentation of the AnLy cell line case. Hum Genet 84:577-579
14. Miller SA, Dykes DD (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
15. Parant M, Cayron R, Ragot CM, Boublil (1969) Anodontia as part of an ectodermal dysplasia with anhidrosis and hypotrichosis. Rev Stomatol Chir Maxillofac 70:461-470
16. Passarge E, Nuzum CT, Schubert WK (1966) Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik 3:181-185
17. Plougastel B, Couillin P, Blanquet V, Le Guern E, Bakker E, Turleau C, De Grouchy J, et al (1992) Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients. Genomics 14:523-525
18. Sofaer JA (1974) Differences between tabby and downless mouse epidermis and dermis in culture. Genet Res 23:219-225
19. _ (1979) Additive effects of the genes tabby and crinkled on tooth size in the mouse. Genet Res 33:169-174
20. Sybert VP (1989) Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Pediatr Dermatol 6: 76-81
21. Turleau C, Niaudet P, Cabanis MO, Plessis G, Cau D, de Grouchy J (1989) X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet 35:462-466
22. Weeks DE, Nygaard TG, Neystat M, Harby LD, Wilhelmsen KC (1995) A high-resolution genetic linkage map of the pericentromeric region of the human X chromosome. Genomics 26:39-46
23. Zonana J (1993) Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin Dermatol 12:241-246
24. Zonana J, Jones M, Browne D, Litt M, Kramer P, Becker HW, Brockdorff N, et al (1992) High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am J Hum Genet 51:1036-1046