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Table 2 X-chromosome inactivation pattern in EDA carrier females

From: EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

Family Case N° (CAG) repeat in AR (bp) % Chromosome X inactivation   Clinical Diagnosis
Variant A1 A2 A1 A2
10 Proband EDA gene deletion 270 270 NI NI HED
10 Monozygotic twin sister EDA gene deletion 270 270 NI NI HED
11 Proband c.729_738del7 286 290 74.4% 25.6% HED
15 Proband c.871G > C 274 277 (*) 60% 40% (*) Random HED
15 Mother c.871G > C 277 (*) 280 61.6% (*) 38.4% Random Normal
16 Proband c.880G > T 268 270 43.5% 56.5% Random HED
16 Mother (−) 265 270 19.8% 80.2% Moderately skewed Normal
31 Proband c.516delC 271 277 40% 60% Random HED
31 Mother (−) 277 277 NI NI Normal
33 Proband Deletion of exon 1 277 294 80.4% 19.6% Moderately skewed HED
33 Mother (−) 277 283 36% 64% Random Normal
36 Proband c.612delG 286 292 76.8% 23.3% Random HED
36 Mother (−) 286 292 55.9% 44.1% Random Normal
  1. (*) Allele carrier of c.871G > C variant, HED hypohidrotic ectodermal dysplasia, NI non-informative