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

Journal Article · Tue Nov 01 04:00:00 EST 1994 · American Journal of Human Genetics

OSTI ID:56834

Das, S; Whitney, S; Vulpe, C; Packman, S; Gitschier, J ^[1]

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1. Univ. of California, San Francisco, CA (United States)

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 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. 26 refs., 3 figs., 2 tabs.

• OSTI ID: 56834
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
GENE MUTATIONS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
HUMAN POPULATIONS
HUMAN X CHROMOSOME
MESSENGER-RNA
NUCLEOTIDES
PHENOTYPE
PROTEINS
SPLICING
TRANSCRIPTION