Diverse mutations in patients with Menkes disease often lead to exon skipping.

Article Details

Citation

Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J

Diverse mutations in patients with Menkes disease often lead to exon skipping.

Am J Hum Genet. 1994 Nov;55(5):883-9.

PubMed ID
7977350 [ View in PubMed
]
Abstract

Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All of the mutations would be predicted to have adverse effects on protein expression. Mutations that resulted in splicing abnormalities, detected by RT-PCR alone, were observed in six patients and included two splice-site changes, a nonsense mutation, a missense mutation, a small duplication, and a small deletion. Chemical cleavage analysis of the remaining six patients revealed the presence of one nonsense mutation, two adjacent 5-bp deletions, and one missense mutation. A valine/leucine polymorphism was also observed. These findings, combined with the prior observation of deletions in 15%-20% of Menkes patients, suggest that Southern blot hybridization and RT-PCR will identify mutations in the majority of patients.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Copper-transporting ATPase 1Q04656Details