Table 2. Identified mutations and their bioinformatic analysis.
| ORF | protein | ex | dbSNP | probands |
relatives |
cont | domain | bioi. | ||
|---|---|---|---|---|---|---|---|---|---|---|
| biall | het | biall | het | het | ||||||
| MSX1 | ||||||||||
| c. 665-666insA | N222KfsX118 | 2 | novel | 1 | 0 | C-terminus | na | |||
| c.708delG | K237SfsX2 | 2 | novel | 1 | 1 | 0 | C-terminus | na | ||
| PAX9 | ||||||||||
| c.140G>C | R47P | 2 | novel | 1 | 0 | paired | SP**) | |||
| c. 167T>C | I56T | 2 | novel | 1 | 0 | paired | SP | |||
| c.340A>T | K114X | 2 | rs104894467 | 1 | 0 | paired | na | |||
| c.406C>T | Q136X | 2 | novel | 1 | 0 | paired | na | |||
| EDA | ||||||||||
| c.612-29del18bp | IPGIPG | 7 | novel | 1*) | 0 | collagen-like | na | |||
| 205-210del | ||||||||||
| c.901-904delTACT | T301SfsX5 | 10 | novel | 1 | 0 | TNF-hom. | na | |||
| c.1069C>T | R357W | 11 | novel | 1*) | 0 | TNF-hom. | SP | |||
| c.1133C>T | T378M | 11 | novel | 1 | 0 | TNF-hom. | SP | |||
| EDAR | ||||||||||
| c.973C>T | R325W | 11 | novel | 3 | 4 | 0 | death-like | SP | ||
| c.1073G>A | R358Q | 12 | novel | 1 | 1 | 0 | death-like | SP | ||
| c.1135G>A | E379K | 12 | novel | 3 | 2 | 0 | death | SP | ||
| c.1172T>A | M391K | 12 | novel | 1 | 1 | 0 | death | SP | ||
| EDARADD | ||||||||||
| c.308C>T | S103F | 7 | rs114632254 | 11***) | 4 | Sp | ||||
| c.508C>T | R170W | 7 | novel | 1 | 0 | death | SP | |||
| WNT10A | ||||||||||
| c.208C>T | R70W | 2 | rs146460077 | 1 | 1 | 0 | NTD, is3****) | SP | ||
| c.337C>T | R113C | 2 | rs141074983 | 4 | 2 | 2 | 0 | NTD | Sp | |
| c.433G>A | V145M | 3 | 1 | 6 | 0 | NTD | SP | |||
| c.433G>T | V145L | 3 | novel | 1 | 0 | NTD | SP | |||
| c.460C>A | L154M | 3 | rs148187600 | 1 | 3 | 0 | NTD | SP | ||
| c.493G>A | G165R | 3 | rs77583146 | 6 | 2 | 0 | NTD | RRGD | ||
| >RRRD | ||||||||||
| c.579-592del | E194AfsX28 | 3 | novel | 1 | 1 | 0 | NTD | na | ||
| GGAACACCCAGCCC | ||||||||||
| c.664G>T | E222X | 3 | novel | 1 | 1 | 1 | 0 | NTD | na | |
| c.682T>A | F228I | 3 | rs121908120 | 9 | 9 | 1 | 16 | 0 | NTD, is3 | SP |
Variant numbers are based on the following cDNA entries in Genbank: MSX1, NM_002448.3; PAX9, NM_006194.3; EDA, NM_001399.4; EDAR, NM_022336.3; EDARADD, NM_145861.2; WNT10A, NM_025216.2.
ex, exon; biall, biallelic, i.e. homozygous or compound heterozygous;
het, heterozygous; cont, controls; bioi, bioinformatics
*)hemizygous
**) S, affects protein function (SIFT); P, probably damaging (PolyPhen2); p, possibly damaging (PolyPhen2); na, not applicable
***) Seven of these were obserbed in combination with a mutation in EDAR or WNT10A
****)NTD, N-terminal a-helical bundle; is3, putative interaction site 3