Clinical and Gene Diagnosis on Menkes Disease in Two Families / 实用儿科临床杂志

ABSTRACT

Objective To detect the mutation of ATP7A gene in 2 families with Menkes disease.Met-hods Genomic DNA of 6 members from 2 families were extracted with salt fractionation.The encoding exons and 2 sides flanking intron of ATP7A gene were amplified from genomic DNA of the probands and their parents by PCR and directly sequence.Light microscope was used to test the hair of probands and normal healthy children.Results Proband 1 had a deletion mutation of c.3 045del T in exon 14 of ATP7A gene and resulted in a stop codon just several nucleotides behind the deletion site.His mother was a heterozygote of the mutation and had normal phenotype.Proband 2 had a nonsense mutation of c.2 956 in exon 14 of ATP7A gene and resulted in a stop of amino acid synthesis.His mother was not a heterozygote of the mutation.Genetype and phenotype in fathers of the 2 probands were normal.Hair of the probands in light microscope were tenuity,midheaven,the color of hair also turned to light.Conclusions The c.3 045del T mutation of ATP7A gene cause the phenotype of Menkes disease in proband 1.His mother is a heterozygote of the disease without symptoms and he is of familial inheritance.The c.2 956 nonsense mutation of ATP7A gene cause the phenotype of Menkes disease in proband 2.His mother is not a heterozygote of the disease and he is not of familial inheritance.