Table 1 Genes associated with craniosynostosis
Gene | Reference sequence | Sutures affected/craniosynostosis syndromes | Inheritance pattern |
|---|---|---|---|
ACTB | NM_001101.3 | Baraitser–Winter syndrome | Autosomal dominant |
ACTG1 | NM_001199954.1 | Baraitser–Winter syndrome | Autosomal dominant |
ALX1 | NM_006982.2 | Frontonasal dysplasia | Autosomal recessive |
ALX3 | NM_006492.2 | Frontonasal dysplasia | Autosomal recessive |
ALX4 | NM_021926.3 | Parietal foramina | Autosomal dominant |
ALX4 | NM_021926.3 | Frontonasal dysplasia | Autosomal recessive |
EFNA4 | NM_005227.2 | Coronal craniosynostosis | Autosomal dominant |
EFNB1 | NM_004429.4 | Craniofrontonasal syndrome | X-linked |
ERF | NM_006494.2 | Multisutural, sagittal, lambdoid | Autosomal dominant |
FGF10 | NM_004465.1 | LADD syndrome | Autosomal dominant |
FGFR1 | NM_023110.2 | Pfeiffer syndrome, Jackson–Weiss syndrome | Autosomal dominant |
FGFR2 | NM_000141.4 | Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson–Weiss syndrome, Beare–Stevenson syndrome, Antley–Bixler syndrome with normal steroidogenesis | Autosomal dominant |
FGFR3 | NM_000142.4 | Muenke syndrome, Crouzon syndrome with acanthosis nigricans | Autosomal dominant |
FREM1 | NM_144966.5 | Metopic craniosynostosis | Autosomal dominant |
IL11RA | NM_001142784.2 | Craniosynostosis and dental anomalies | Autosomal recessive |
MID1 | NM_000381.3 | Opitz syndrome, X-linked | X-linked |
MSX2 | NM_002449.4 | Craniosynostosis Boston type, parietal foramina | Autosomal dominant |
POR | NM_000941.2 | Antley–Bixler syndrome with disordered steroidogenesis | Autosomal recessive |
RECQL4 | NM_004260.3 | Baller–Gerold syndrome | Autosomal recessive |
RUNX2 | NM_001024630.3 | Cleidocranial dysplasia | Autosomal dominant |
TCF12 | NM_207036.1 | Coronal craniosynostosis | Autosomal dominant |
