Table 7 Genes associated with human medial craniofacial defects that were dysregulated with RAR inhibition in X. laevis. A-B: Human orthologs of Xenopus genes significantly altered with early RAR inhibition (A) or late RAR inhibition (B) that were associated with a craniofacial defect (compiled with the use of OMIM.org)
From: Transcriptome analysis of Xenopus orofacial tissues deficient in retinoic acid receptor function
Gene | Associated Disease with Median Orofacial Defect | Disease OMIM Number |
|---|---|---|
A: Genes with Altered Expression After Early RAR Inhibition | ||
 ALDOA | GLYCOGEN STORAGE DISEASE XII | 611,881 |
 ATRX | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | 301,040 |
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | 309,580 | |
 BMP2 | BRACHYDACTYLY, TYPE A2 | 112,600 |
 CHRNG | MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | 265,000 |
 COL11A1 | MARSHALL SYNDROME | 154,780 |
FIBROCHONDROGENESIS 1 | 228,520 | |
STICKLER SYNDROME, TYPE II | 604,841 | |
 COL2A1 | STICKLER SYNDROME, TYPE 1 | 108,300 |
KNIEST DYSPLASIA | 156,550 | |
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA | 183,900 | |
 COL9A2 | STICKLER SYNDROME, TYPE IV | 614,284 |
 EFNB1 | CRANIOFRONTONASAL SYNDROME | 304,110 |
 GJB2 | VOHWINKEL SYNDROME | 124,500 |
 KLHL41 | NEMALINE MYOPATHY 9 | 615,731 |
NEMALINE MYOPATHY 3 | 161,800 | |
 MAFB | OROFACIAL CLEFT 1 | 119,530 |
 MYH3 | ARTHROGRYPOSIS, DISTAL, TYPE 2A | 193,700 |
 PITX1 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | 119,800 |
 RAPSN | FETAL AKINESIA DEFORMATION SEQUENCE | 208,150 |
 SMC3 | CORNELIA DE LANGE SYNDROME 3 | 610,759 |
 TRAPPC9 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 | 613,192 |
B: Genes with Altered Expression After Late RAR Inhibition | ||
 ALX1 | FRONTONASAL DYSPLASIA 3 | 613,456 |
 ALX4 | PARIETAL FORAMINA 2 | 609,597 |
FRONTONASAL DYSPLASIA 2 | 613,451 | |
 BMP2 | BRACHYDACTYLY, TYPE A2 | 112,600 |
 COL9A2 | STICKLER SYNDROME, TYPE 1 | 108,300 |
 CYP26C1 | FOCAL FACIAL DERMAL DYSPLASIA 4 | 614,974 |
 DLX2 | AXENFELD-RIEGER SYNDROME, TYPE 1 | 180,500 |
 GATA3 | HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE | 146,255 |
 HIC1 | LISSENCEPHALY 1 | 607,432 |
MILLER-DIEKER LISSENCEPHALY SYNDROME | 247,200 | |
 RARB | MICROPHTALMIA, SYNDROMIC 12 | 615,524 |
 SMOC1 | MICROPHTHLAMIA WITH LIMB ANOMALIES | 206,920 |