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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

FamilyCaseN° (CAG) repeat in AR (bp)% Chromosome X inactivation Clinical Diagnosis
VariantA1A2A1A2
10ProbandEDA gene deletion270270NINIHED
10Monozygotic twin sisterEDA gene deletion270270NINIHED
11Probandc.729_738del728629074.4%25.6%HED
15Probandc.871G > C274277 (*)60%40% (*)RandomHED
15Motherc.871G > C277 (*)28061.6% (*)38.4%RandomNormal
16Probandc.880G > T26827043.5%56.5%RandomHED
16Mother(−)26527019.8%80.2%Moderately skewedNormal
31Probandc.516delC27127740%60%RandomHED
31Mother(−)277277NININormal
33ProbandDeletion of exon 127729480.4%19.6%Moderately skewedHED
33Mother(−)27728336%64%RandomNormal
36Probandc.612delG28629276.8%23.3%RandomHED
36Mother(−)28629255.9%44.1%RandomNormal
  1. (*) Allele carrier of c.871G > C variant, HED hypohidrotic ectodermal dysplasia, NI non-informative