Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia

American Journal of Medical Genetics

Volumn 100, Issue 3, 2001, Pages 191-197

  Kobielak, Krzysztof ^a   Kobielak, Agnieszka ^a   Roszkiewicz, Jadwiga ^b   Wierzba, Jolanta ^b   Limon, Janusz ^b   Trzeciak, Wiestaw Henryk ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Ectodysplasin A; EDA gene; TNF ligand family; TNF receptor family

Indexed keywords

ASPARAGINE; DNA; ECTODYSPLASIN A; GENE PRODUCT; ISOLEUCINE; LIGAND; LYSINE; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ANHIDROTIC ECTODERMAL DYSPLASIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, TUMOR NECROSIS FACTOR; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

EID: 0035341488     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1225     Document Type: Article

References (18)

1. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutation in collagenous repeats
2. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
3. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
4. Scarcity of mutations detected in families with X-linked hypohidrotic ectodermal dysplasia: Diagnostic implications
5. Schirmer test of lacrimation. Its clinical importance
6. Involvement of a novel Tnf receptor homologue in hair follicle induction
7. Sweat sodium related to amount of sweat after sweat test in children with and without cystic fibrosis
8. X-Linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
9. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia
10. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
11. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
12. Mutation in the homelegue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
13. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
14. Christ-Siemens-Touraine syndrome: Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers
15. Coupled amplification and sequencing of genomic DNA
16. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains