Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
Nat Genet
; 8(2): 195-202, 1994 Oct.
Article
em En
| MEDLINE
| ID: mdl-7842019
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.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Recombinantes de Fusão
/
Proteínas de Transporte
/
Splicing de RNA
/
Mutação Puntual
/
Adenosina Trifosfatases
/
Proteínas de Transporte de Cátions
/
Síndrome de Ehlers-Danlos
/
Síndrome dos Cabelos Torcidos
/
Osso Occipital
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article