Key result
Missense mutations in KVLQT1 predominate in Romano-Ward syndrome, whereas nonsense and frameshift mutations predominate in Jervell and Lange-Nielsen syndrome.
Highlights the genetic distinctions between Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome regarding KVLQT1 mutations.
However, a potential splice sequence, GGG.gtaagt, remains.4 Splicing here would delete a single valine, 5 causing a mutant protein capable of dominant-negative action.Missense mutations in KVLQT1 predominate in RWS, whereas nonsense and frameshift mutations predominate in Jervell and Lange-Nielsen syndrome (Tyson, 1998, unpublished data).Carriers of nonsense mutations rarely manifest RWS clinically.The gene product of the null allele should not interfere with the wild-type allele in a dominant-negative manner.
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Pentti M. Rautaharju (1999) conducted an editorial in Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome. KVLQT1 mutations was evaluated. Missense mutations in KVLQT1 predominate in Romano-Ward syndrome, whereas nonsense and frameshift mutations predominate in Jervell and Lange-Nielsen syndrome.
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