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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)