Table 1. Overview of patients with WNT10A mutations described in the literature.
| First alleleb | Second alleleb | ||||||
|---|---|---|---|---|---|---|---|
| Authors | Year of publication | Phenotypea | Number of patients | Nucleotide substitution | Amino-acid substitution | Nucleotide substitution | Amino-acid substitution |
| Adaimy et al | 200714 | OODD | 6 | c.697G>T | p.(Glu233*) | c.697G>T | p.(Glu233*) |
| Bohring et al | 200915 | Severe oligodontia, mild signs of ED – dysecectodermal dysplasia | 2 | c.321C>A | p.(Cys107*) | c.383G>A | p.(Arg128Gln) |
| OODD | 2 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | ||
| SSPS | 1 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | ||
| OODD | 1 | c.1128C>A | p.(Cys376*) | c.1128C>A | p.(Cys376*) | ||
| 3 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | |||
| 2 | c.682T>A | p.(Phe228Ile) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.27G>A | p.(Trp9*) | c.27G>A | p.(Trp9*) | |||
| Van den Boogaard et al | 201210 | Syndromic hypodontia | 2 | c.321C>A | p.(Cys107*) | (–) | (–) |
| 1 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | |||
| 4 | c.682T>A | p.(Phe228Ile) | ()(−) | (−) () | |||
| 3 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.682T>A | p.(Phe228Ile) | c.831G>T | p.(Trp277Cys) | |||
| Non-syndromic hypodontia (isolated hypodontia, absent/very mild ED symptoms) | 1 | c.283G>A | p.(Glu95Lys) | c.682T>A | p.(Phe228Ile) | ||
| 2 | c.321C>A | p.(Cys107*) | (−) | (−) | |||
| 3 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.383G>A | p.(Arg128Gln) | (−) | (−) | |||
| 1 | c.433G>A | p.(Val145Met) | c.433G>A | p.(Val145Met) | |||
| 1 | c.487C>T | p.(Arg163Trp) | (−) | (−) | |||
| 9 | c.682T>A | p.(Phe228Ile) | (−) | (−) | |||
| 1 | c.918T>A | p.(Asn306Lys | (−) | (−) | |||
| Cluzeau et al | 201117 | OODD | 1 | c.146dupT | p.(Glu52Glyfs*29) | (−) | (−) |
| OODD-like syndrome | 8 | c.682T>A | p.(Phe228Ile) | c.682T>A | p.(Phe228Ile) | ||
| Castori et al | 201118 | SSPS | 3 | c.796G>T | p.(Gly266Cys) | c.796G>T | p.(Gly266Cys) |
| 3 | c.391G>A | p.(Ala131Thr) | c.391G>A | p.(Ala131Thr) | |||
| Van Geel et al | 201016 | OODD | 1 | c.321C>A | p.(Cys107*) | c.382C>T | p.(Arg128*) |
| 2 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | |||
| Kantaputra et al | 20119 | Hypodontia/microdontia | 4 | c.649G>A | p.(Asp217Asn) | c.682T>A | p.(Phe228Ile) |
| Mostowska et al | 201211 | Non-syndromic TA | 1 | c.286T>C | p.(Cys96Arg) | c.321C>A | p.(Cys107*) |
| 1 | c.321C>A | p.(Cys107*) | (−) | (−) | |||
| 2 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | |||
| 1 | c.321C>A | p.(Cys107*) | c.337C>T | p.(Arg113Cys) | |||
| 6 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.337C>T | p.(Arg113Cys) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.382C>T | p.(Arg128*) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.404C>A | p.(Ala135Asp) | c.682T>A | p.(Phe228Ile) | |||
| 2 | c.511C>T | p.(Arg171Cys) | (−) | ||||
| 3 | c.682T>A | p.(Phe228Ile) | (−) | (−) | |||
| 5 | c.682T>A | p.(Phe228Ile) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.682T>A | p.(Phe228Ile) | c.1124T>C | p.(Met375Thr) | |||
| 1 | c.945C>T | p.(Ala315Ala) | (−) | ||||
| Nagy et al | 20108 | SSPS | 1 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) |
| Nawaz et al | 20097 | OODD | 6 | c.392C>T | p.(Ala131Val) | c.392C>T | p.(Ala131Val) |
| Petrof et al | 201120 | SSPS | 1 | c.321C>A | p.(Cys107*) | c.321 C>A | p.(Cys107*) |
| Plaisancié et al | 2012 | TA with minor signs of ED | 1 | c.1A>T | p.(Met1?) | c.321C>A | p.(Cys107*) |
| 1 | c.283G>A | p.(Glu95Lys) | c.283 G>A | p.(Glu95Lys) | |||
| 2 | c.321C>A | p.(Cys107*) | (−) | (−) | |||
| 1 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) | |||
| 1 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.321C>A | p.(Cys107*) | c.796G>A | p.(Gly266Ser) | |||
| 1 | c.376G>A | p.(Gly126Ser) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.487C>T | p.(Arg163Trp) | (−) | (−) | |||
| 1 | c.487C>T | p.(Arg163Trp) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.637G>A | p.(Gly213Ser) | c.1070C>T | p.(Thr357Ile) | |||
| 9 | c.682T>A | p.(Phe228Ile) | (−) | (−) | |||
| 4 | c.682T>A | p.(Phe228Ile) | c.682T>A | p.(Phe228Ile) | |||
| 1 | c.682T>A | p.(Phe228Ile) | c.1078C>T | p.(Arg360Cys) | |||
| 1 | c.1078C>T | p.(Arg360Cys) | (−) | (−) | |||
| 1 | c.1135C>T | p.(Arg379Cys) | (−) | (−) | |||
| 1 | c.1135C>T | p.(Arg379Cys) | c.1226_1230del | p.(Ile409Argfs*17) | |||
| Wedgeworth et al | 201119 | SSPS | 1 | c.321C>A | p.(Cys107*) | c.321C>A | p.(Cys107*) |
| OODD | 3 | c.321C>A | p.(Cys107*) | c.682T>A | p.(Phe228Ile) | ||
| Hypodontia | 2 | c.682T>A | p.(Phe228Ile) | c.682T>A | p.(Phe228Ile) | ||
| SSPS | 1 | c.321C>A | p.(Cys107*) | (−) | (−) | ||
a
Description as by author.
b
According to GenBank NM_025216.2.