Table III.
Summary details of significant variants in core genes associated with craniosynostosis
| Gene | Inheritance Pattern | Proband | Sex | SSCa | Variant | ExAC MAF | GO-ESP All MAF | Inh | Classb |
|---|---|---|---|---|---|---|---|---|---|
| ERF | AD | 95681† | F | C | NM_006494.3:c.1103C>T; p.(Ser368Phe) | *** | *** | na | US |
| FGFR1 | AD | 95655 | M | M | NM_023110.2:c.181G>A; p.(Val61Met) | 8.6E-06 | *** | mat | US |
| IL11RA | AR | 95536 | M | S | NM_001142784.2:c.388T>A; p.(Cys130Ser) | *** | *** | na | US |
| MEGF8 | AR | 95509 | F | C | NM_001410.2:c.1282G>A; p.(Val428Met) | 2.5E-05 | *** | na | US |
| 95459 | M | C | NM_001410.2:c.2167C>T; p.(Arg723Cys) | 3.4E-05 | *** | na | US | ||
| 95639 | F | M | NM_001410.2:c.3224C>T; p.(Thr1075Ile) | *** | *** | na | US | ||
| 163666 | F | S | NM_001410.2:c.3685G>A; p.(Gly1229Arg) | 1.9E-05 | *** | pat | US | ||
| 95677 | M | C | NM_001410.2:c.4532G>A; p.(Arg1511His) | 1.6E-04 | *** | na | US | ||
| 163575‡ | F | M | NM_001410.2:c.5507A>T; p.(Asp1836Val) | 3.7E-05 | *** | na | US | ||
| POR | AR | 95681† | F | C | NM_000941.2:c.1358G>A; p.(Arg453His) | 5.0E-05 | 2.0E-04 | na | US |
| RAB23 | AR | 95644 | F | C | NM_183227.2:c.25G>A; p.(Ala9Thr) | 1.1E-04 | 2.0E-04 | na | US |
| SKI | AD | 163646 | F | C | NM_003036.3:c.463G>T; p.(Ala155Ser) | *** | *** | pat | US |
| TCF12 | AD | 163548 | M | C | NM_207036.1:c.1831C>T; p.(Arg611Cys) | 8.2E-06 | *** | pat | LP |
| 95628 | F | M | NM_207036.1:c.1907A>G; p.(Lys636Arg) | *** | *** | na | LP | ||
| 163717 | M | S | NM_207036.1:c.2024A>C; p.(Glu675Ala) | *** | *** | mat | US |
a
Type of Single Suture Craniosynostosis (SSC): C, coronal; S, sagittal; M, metopic; L, Lambdoid
b
Variants classified according to ACMG Guidelines (see methods). P, Pathogenic; LP, Likely Pathogenic; US, Uncertain Significance; LB, Likely Benign.
†
Proband 95681 has two potentially damaging variants on Table III: ERF p.(Ser368Phe) and POR p.(Arg453His).
‡
Proband 163575 has two potentially damaging variants on Tables III and IV: MEGF8 p.(Asp1836Val) and MASP1 p.(Arg119Gln)
***
not listed
Inh= Inherited allele: paternal (pat); maternal (mat); na, neither parent available for testing.