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Table 2 ELN mutations identified in this cohort

From: Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Patients Origin cDNA level Protein level
Family 1 Netherlands c.2365delC (exon 34) p.(Arg789GlyfsX30)
Family 2 Switzerland c.2189delG (exon 30) p.(Gly730AlafsX25)
Family 3 France c.2262delA (exon32) p.(Gly156ValfsX63)
Family 4 France c.2262delA (exon32) p.(Gly156ValfsX63)
Family 5 France c.2262delA (exon32) p.(Gly156ValfsX63)
Sporadic case France c.2142delG (exon 30) p.(Leu715Serfsx40)
Family 6 France c.2262delA (exon32) p.(Gly156ValfsX63)