RGD Reference Report - Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. - Rat Genome Database

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

Authors: Kaler, SG  Gallo, LK  Proud, VK  Percy, AK  Mark, Y  Segal, NA  Goldstein, DS  Holmes, CS  Gahl, WA 
Citation: Kaler SG, etal., Nat Genet. 1994 Oct;8(2):195-202.
RGD ID: 11252182
Pubmed: PMID:7842019   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1094-195   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Menkes disease  IAGP 11252182DNA:snp:intron:c.4268+3A>T (human)RGD 
Menkes disease  ISOATP7A (Homo sapiens)11252182; 11252182DNA:snp:intron:c.4268+3A>T (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cutis laxa  IAGP 11252182DNA:snp:intron:c.4268+3A>T (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Atp7a  (ATPase copper transporting alpha)

Genes (Mus musculus)
Atp7a  (ATPase, Cu++ transporting, alpha polypeptide)

Genes (Homo sapiens)
ATP7A  (ATPase copper transporting alpha)


Additional Information