Mutation detection and prenatal diagnosis of XLHED pedigree.

BACKGROUND

The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin ( is the causative gene of XLHED.

METHODS

The current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleotide variation in gene was screened through direct sequencing the coding sequence. The methylation state of gene's promoter was evaluated by pyrosequencing.

RESULTS

This Chinese XLHED family had two male patients and three carriers. All of them were with a novel frameshift mutation. The mutation, c.172-173insGG, which leads to an immediate premature stop codon in exon one caused severe structural changes of EDA. Prenatal diagnosis suggested that the fetus was a female carrier. The follow-up observation of this child indicated that she had mild hypodontia of deciduous teeth at age six. The methylation level of gene's promoter was not related to carriers' phenotype changes in this family.

DISCUSSION

We reported a new frameshift mutation of gene in a Chinese family. Prenatal diagnosis can help to predict the disease status of the fetus.