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Table 3 Genotype – phenotype correlations in ADCL

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

Missense F/M individuals Mean age FH IH FG ARD BAV VA Emphys transmission
Exon 30 5/7 21.9 50 64 100 82 10 70 40 100
Exon 32 6/6 17.1 90 17 100 50 0 25 0 95
Exon 33 2/2 21 33 50 100 50 25 50 100 100
Exon 34 3/5 49.5 100 75 100 38 0 25 50 91
Chr rearr 3/0 42 100 67 100 ? 0 0 100 56
Total 19/20 27.3 63 50 100 57 5 38 35 83
  1. Frequencies (%) of the clinical characteristics are given for mutations in the different exons. Chr rear, Chromosomal rearrangement as described by [7]. Mean age in years. F, female; M, male; FH, family history; IH, Inguinal hernia; FG, Facial gestalt; ARD, aortic root dilatation; BAV, bicuspid aortic valve; VA, other valve anomalies; Emphys, emphysema. References: [38].