Table 1.
List of mutations inf FOXF1 coding sequence
| Patient ID | Exon/Intron | DNA Variant Mutalyzer | Protein Variant Mutalyzer | Type | Located in DNA binding domain† | Parental origin | Predicted effect on protein | Reference |
|---|---|---|---|---|---|---|---|---|
| 1 | exon 1 | c.145C>T | p.Pro49Ser | missense | √ | de novo | Probably deleterious¶ | This Study |
| 2 | exon 1 | c.89C>A | p.Ser30* | nonsense | de novo | deleterious | This Study | |
| 3 | exon 1 | c.872_879del8 | p.Ser291* | nonsense | de novo | deleterious | This Study | |
| 4 | exon 1 | c.899_903dup5 | p.Gly302Cysfs*79 | frameshift | de novo | deleterious | This Study | |
| 5 | exon 1 | c.191C>A | p.Ser64* | nonsense | √ | de novo | deleterious | This Study |
| 6 | exon 1 | c.691_698del8 | p.Ala231Argfs*61 | frameshift | de novo | deleterious | This Study | |
| 7a | exon 1 | c.235C>T | p.Gln79* | nonsense | √ | de novo | deleterious | This Study |
| 7b | exon 2 | c.988C>T | p.Arg330Trp | missense | de novo | Probably deleterious¶ | This Study | |
| 8 | exon 1 | c.256C>T | p.Arg86Trp | missense | √ | de novo | Probably deleterious¶ | This Study |
| 9 | exon 1 | c.302C>T | p.Ser101Leu | missense | √ | de novo | Probably deleterious¶ | This Study |
| 10 | exon 1 | c.338_358del21 | p.Leu113_Gly119del | inframe deletion | √ | de novo | deleterious | This Study |
| 11 | exon 2 | c.1139G>C | p.*380Serext*73 | no stop | de novo | deleterious | This Study | |
| 12 | exon 1 | c.158A>G | p.Tyr53Cys | missense | √ | de novo | Probably deleterious¶ | This Study |
| 13 | exon 1 | c.936del1 | p.Tyr313Ilefs*66 | frameshift | de novo | deleterious | This Study | |
| 14 | exon 1 | c.899del1 | p. Leu300Argfs*79 | frameshift | de novo | deleterious | This Study | |
| 15 | exon 1 | c.286G>A | p.Val96Met | missense | √ | de novo | Probably deleterious¶ | This study |
| 16 | exon 1 | c.221T>A | pIle74Asn | missense | √ | de novo | Probably deleterious¶ | This Study |
| 17 | exon 1 | c.710dupC | p.His238Alafs*57 | frameshift | de novo | deleterious | This Study | |
| 18 | exon 1 | c.276G>A | p.Trp92* | nonsense | √ | de novo | Probably deleterious¶ | This Study |
| 19 | exon 2 | c.1021_1022insA | p.Arg341Glnfs*70 | frameshift | de novo | deleterious | This Study | |
| 20 | exon 1 | c.155C>T | p.Ser52Phe | missense | √ | de novo | Probably deleterious¶ | This Study |
| 21 | exon 1 | c.272_273delinsAA | p.Gly91Glu | missense | √ | de novo | Probably deleterious¶ | This Study |
| 22 | exon 1 | c.849_850del2 | p.Ile285Glnfs*9 | frameshift | de novo | deleterious | This Study | |
| 23 | exon 1 | c.539C>A | p.Ser180* | nonsense | de novo | deleterious | This Study | |
| 24 | exon 1 | c.290G>A | p.Arg97His | missense | √ | de novo | Probably deleterious¶ | This Study |
| 25 | exon 1 | c.254T>C | p.Phe85Ser | missense | √ | de novo | Probably deleterious¶ | This Study |
| 26 | exon 1 | c.356G>A | p.Gly119Asp | missense | √ | de novo | Probably deleterious¶ | This Study |
| 27 | exon 1 | c.272G>T | p.Gly91Val | missense | √ | de novo | Probably deleterious¶ | This study |
| 28 | exon 1 | c.310G>T | p.Glu104* | nonsense | √ | not known | deleterious | This study |
| 29 | exon 1 | c.810G>A | p.Trp270* | nonsense | de novo | deleterious | This study | |
| 30 | exon 1 | c.862C>T | p.Gln288* | nonsense | de novo | deleterious | This study | |
| 31 | exon 1 | c.146C>A | p.Pro49Gln | missense | √ | not known | Probably deleterious¶ | This study |
| 32 | exon 1 | c.377C>T | p.Pro126Leu | missense | √ | not known | Probably deleterious¶ | This study |
| 33 | exon 1 | c.316T>C | p.Phe106Leu | missense | √ | not known | Probably deleterious¶ | This study |
| 34§ | exon 1 | c.253T>A | p.Phe85Ile | missense | √ | likely germline mosaicism | Probably deleterious¶ | This study |
| 35§ | exon 1 | c.253T>C | p.Phe85Leu | missense | √ | maternal | Probably deleterious¶ | This study |
| 36§ | exon 1 | c.294C>A | p.His98Gln | missense | √ | maternal | Probably deleterious¶ | This Study |
| 37§ | exon 1 | c.416G>T | p.Arg139Leu | missense | √ | maternal | Probably deleterious¶ | Sen et al 2012 |
| 38 | exon 1 | c.225C>A | p.Tyr75* | nonsense | √ | de novo | deleterious | Stankiewicz et al 2009 |
| 39 | exon 1 | c.850dupT | p.Tyr284Leufs*11 | frameshift | de novo | deleterious | Stankiewicz et al 2009 | |
| 40 | exon 2 | c.1031_1032del2 | p.Phe344Cysfs*66 | frameshift | de novo | deleterious | Stankiewicz et al 2009 | |
| 41 | exon 2 | c.1138T>C | p.*380Argext*73 | no stop | de novo | deleterious | Stankiewicz et al 2009 |
†
DNA binding domain (Mahlapuu et al 1998)
§
Familial case, present in the mother
¶
Predicted by in silico prediction programs (SIFT; PolyPhen2)
The RefSeq used was NM_001451.2 and the mutations have been named using directions from Mutalyzer (https://humgenprojects.lumc.nl/trac/mutalyzer)