Table 5 Allelic variants identified in the WNT10A gene

27

F

c.1A > T

Exon 1

p.M1?

c.321C > A

Exon 2

p.Cys107*

Inherited/Inherited

NSTA+

[37]/ [38]

46

F

c.27G > A

Exon 1

p.Trp9*

c.92 T > A

Exon 1

p.Leu31Glu

Inherited/Inherited

HED

[38]/Novel

43

F

c.18_43del26

Exon 1

p.Arg7Alafs*28

c.18_43del26

Exon 1

p.Arg7Alafs*28

ND

SSPS

Novel

44

F

c.18_43del26

Exon 1

p.Arg7Alafs*28

c.1131C > A

Exon 4

p.Cys377*

Inherited/Inherited

Normohidrotic ED

Novel/Novel

41

M

c.514A > T

Exon 2

p.Arg172Trp

(−)

(−)

(−)

Inherited

OODD

[39]

28

M

c. 682 T > A

Exon 3

p.Phe228Ile

(−)

(−)

(−)

Inherited

NSTA

[38]

39

M

c. 682 T > A

Exon 3

p.Phe228Ile

(−)

(−)

(−)

Inherited

NSTA

[38]

49

M

c.321C > A

Exon 2

p.Cys107*

c.321C > A

Exon 2

p.Cys107*

Inherited/Inherited

SSPS

[38]