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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