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PMID: 7842019 Published · ppublish English Case Reports Comparative Study Journal Article

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Nature genetics ·Vol. 8 ·No. 2 ·1994-10-00 ·Pages 195-202

Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA

Abstract

We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes. In one family, four males aged 2-36 years with a distinctive Menkes variant have a mutation at the +3 position of a splice donor site near the 3' end of the Menkes coding sequence that is associated with exon skipping and a stable mutant transcript. In an unrelated 15-year-old male with typical occipital horn syndrome, a point mutation at the -2 exonic position of a splice donor site in the middle of the gene causes exon-skipping and activation of a cryptic splice acceptor site. In both mutations, maintenance of some normal splicing is demonstrable by RT-PCR, cDNA sequencing and ribonuclease protection.

Related Genes

MNK Mo Mo<up>blo</up> Mo<up>br</up>

MeSH Terms

Adenosine Triphosphatases/chemistry,genetics Adolescent Animals Base Sequence Carrier Proteins/genetics Cation Transport Proteins Cells, Cultured Ceruloplasmin/analysis Copper/blood Copper-Transporting ATPases DNA Mutational Analysis Dihydroxyphenylalanine/blood,cerebrospinal fluid Ehlers-Danlos Syndrome/blood,cerebrospinal fluid,classification,genetics Exons Female Fibroblasts/metabolism Humans Male Menkes Kinky Hair Syndrome/blood,cerebrospinal fluid,genetics Methoxyhydroxyphenylglycol/analogs & derivatives,blood,cerebrospinal fluid Mice Mice, Neurologic Mutants Molecular Sequence Data Occipital Bone/abnormalities Pedigree Phenotype Point Mutation Polymerase Chain Reaction RNA Splicing Recombinant Fusion Proteins Sequence Homology, Amino Acid Species Specificity Terminator Regions, Genetic

Chemicals

Atp7a protein, mouse Carrier Proteins Cation Transport Proteins Recombinant Fusion Proteins Methoxyhydroxyphenylglycol Dihydroxyphenylalanine Copper Ceruloplasmin Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases 3,4-dihydroxyphenylglycol

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Kaler S G

Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

Gallo L K

Proud V K

Percy A K

Mark Y

Segal N A

Goldstein D S

Holmes C S

Gahl W A

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1094-195

Published

1994-10-00

Pages

195-202

Language

English

Region

United States

NLM ID

9216904

Subset

External Links

PubMed source DOI: 10.1038/ng1094-195 View journal details

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

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