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

Clinical Genetics
J M HertzN Gregersen

Abstract

Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a predicted transmembrane protein of 135 amino acids, which was found to be expressed in keratinocytes, hair follicles, and sweat glands. A variety of rearrangements in this gene have been found in patients with hypohidrotic ectodermal dysplasia. We have screened the probands from nine unrelated Danish families with hypohidrotic ectodermal dysplasia for mutation in exon 1 of the EDA-gene by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). In one large kindred we identified a novel missense mutation (402C-->T), which changes a histidine to tyrosine at position 54 in the protein. This mutation cosegregates with the disease in the family and is the first mutation described which affects the predicted transmembrane, hydrophobic domain of the protein.

References

Jun 1, 1989·Clinical Genetics·C TurleauJ de Grouchy
Nov 1, 1987·Journal of Medical Genetics·A Clarke

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Citations

Jan 30, 2015·International Journal of Dermatology·Glustein Pozo-MolinaAdolfo René Méndez-Cruz
Sep 2, 2003·American Journal of Medical Genetics. Part a·Atila F VisinoniEleidi A Chautard-Freire-Maia
Nov 5, 2002·The Journal of Clinical Pediatric Dentistry·Ekaterini PaschosReinhard Hickel
Aug 22, 2003·Experimental Dermatology·Takaki HashiguchiTamotsu Kanzaki
Sep 10, 2005·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Margret L CasalPetra Werner
Jan 25, 2005·International Journal of Paediatric Dentistry·H SekiguchiM Yakushiji
Jun 6, 2003·Cytokine & Growth Factor Reviews·Marja L Mikkola, Irma Thesleff

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