132:
leads to an unusual chromosome 7 arrangement. The milder phenotypes of Raine syndrome, such as those described in
Simpson's 2007 report, suggest that Raine syndrome resulting from missense mutations may not be as lethal as the other described mutations (OMIM). This is supported by findings from Fradin et al. (2011), who reported on children with missense mutations to FAM20C and lived to ages 1 and 4 years, relatively much longer than the life spans of the previously reported children. Simpson et al.'s (2007) report states that to date, effected individuals have had chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion. They had abnormal chromosome 7 arrangements, with microdeletions of their D7S2477 and D7S1484 markers (Simpson 2007).
40:
84:
118:
Raine syndrome appears to be an autosomal recessive disease. There are reports of recurrence in children born of the same parents, and an increased occurrence in children of closely related, genetically similar parents. Individuals with Raine syndrome were either homozygous or compound heterozygous
70:
characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteosclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually leads to death within a few hours of birth. However, a recent report
122:
FAM20C, located on chromosome 7p22.3, is an important molecule in bone development. Studies in mice have demonstrated its importance in the mineralization of bones in teeth in early development (OMIM, Simpson et al. 2007, Wang et al. 2010). FAM20C stands for âfamily with sequence similarity 20,
131:
Current research describes Raine syndrome as a neonatal osteosclerotic bone dysplasia, indicated by its osteosclerotic symptoms that are seen in those with the disease. It has been found that a mutation in the gene FAM20C is the cause of the Raine syndrome phenotype. This microdeletion mutation
229:
Simpson, M. A., Hsu, R., Keir, L. S., Hao, J., Sivapalan, G., Ernst, L. M., ... & Crosby, A. H. (2007). Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. The
American Journal of Human Genetics,
123:
member C.â It is also commonly referred to as DMP-4. It is a Golgi-enriched fraction casein kinase and an extracellular serine/threonine protein kinase. It is 107,743 bases long, with 10 exons and 584 amino acids (Weizmann
Institute of Science).
264:
225:
Raine, J., Winter, R. M., Davey, A., & Tucker, S. M. (1989). Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. Journal of medical genetics,26(12),
237:
Wang, X., Hao, J., Xie, Y., Sun, Y., Hernandez, B., Yamoah, A. K., ... & Qin, C. (2010). Expression of FAM20C in the
Osteogenesis and Odontogenesis of Mouse. Journal of Histochemistry & Cytochemistry, 58(11),
233:
Simpson, M. A., Scheuerle, A., Hurst, J., Patton, M. A., Stewart, H., & Crosby, A. H. (2009). Mutations in FAM20C also identified in nonâlethal osteosclerotic bone dysplasia. Clinical genetics, 75(3),
71:
describes two studies in which children with Raine syndrome have lived to 8 and 11 years old, so it is currently proposed that there is a milder expression that the phenotype can take (Simpson 2009).
1359:
140:
It was first characterized in 1989 in a report by J. Raine published on an infant that had been born with an unknown syndrome, which later came to be called Raine syndrome.
731:
945:
834:
350:
222:
Kan, A. E., & Kozlowski, K. (1992). New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). American
Journal of Medical Genetics, 43(5), 860â864.
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412:
1364:
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940:
435:
1221:
1065:
785:
1302:
759:
797:
1186:
1165:
827:
640:
621:
445:
417:
343:
276:
790:
764:
1090:
159:"Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis"
1369:
1286:
389:
820:
336:
119:
for the mutation of FAM20C. Also observed have been nonsynonomous mutation and splice-site changes (Simpson et al. 2007).
1143:
564:
508:
440:
513:
1029:
980:
889:
630:
675:
1312:
991:
1339:
751:
736:
287:
878:
724:
661:
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960:
919:
691:
612:
812:
316:
205:
741:
529:
407:
367:
359:
216:
Fradin, M., Stoetzel, C., Muller, J., Koob, M., Christmann, D., Debry, C., ... & Doray, B. (2011).
219:
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clinical genetics, 80(2), 177â183.
1121:
780:
558:
496:
67:
1243:
914:
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935:
930:
654:
600:
188:
1210:
1054:
956:
905:
860:
678:
589:
534:
503:
211:
178:
170:
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FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C. (n.d.). Retrieved from OMIM website:
1010:
719:
686:
468:
210:
Family with sequence similarity 20, member C. (n.d.). Retrieved from Gene Cards website:
39:
711:
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372:
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64:
61:
192:
174:
844:
539:
328:
311:
256:
1273:
848:
708:
206:
http://omim.org/entry/611061?search=DMP4&highlight=dmp4#reference2
268:
1318:
1081:
1020:
1001:
971:
869:
490:
281:
816:
332:
78:
47:
This condition is inherited in an autosomal recessive manner
212:
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM20C
157:
Raine J, Winter RM, Davey A, Tucker SM (December 1989).
94:
246:
16:
Osteosclerotic bone dysplasia, a congenital disorder
1295:
1272:
1252:
1236:
1203:
1174:
1158:
1136:
1114:
1080:
1044:
1019:
1000:
970:
904:
868:
859:
773:
750:
707:
674:
639:
620:
611:
575:
548:
528:
482:
454:
426:
398:
380:
366:
302:
250:
29:
24:
732:Autosomal recessive multiple epiphyseal dysplasia
1360:Congenital disorders of musculoskeletal system
828:
344:
8:
1106:Transient bullous dermolysis of the newborn
1096:Recessive dystrophic epidermolysis bullosa
865:
835:
821:
813:
617:
545:
377:
351:
337:
329:
247:
38:
21:
182:
149:
941:Spondyloepiphyseal dysplasia congenita
436:Spondyloepiphyseal dysplasia congenita
1222:Ullrich congenital muscular dystrophy
1066:Ullrich congenital muscular dystrophy
413:Jansen's metaphyseal chondrodysplasia
7:
1303:Congenital stromal corneal dystrophy
760:Rhizomelic chondrodysplasia punctata
33:Lethal osteosclerotic bone dysplasia
1187:Otospondylomegaepiphyseal dysplasia
1166:Schmid metaphyseal chondrodysplasia
446:Otospondylomegaepiphyseal dysplasia
418:Schmid metaphyseal chondrodysplasia
14:
1182:WeissenbacherâZweymĂŒller syndrome
1091:Epidermolysis bullosa dystrophica
946:Spondyloepimetaphyseal dysplasia,
1375:Diseases named after discoverers
1282:Junctional epidermolysis bullosa
786:Short rib â polydactyly syndrome
82:
1287:Laryngoonychocutaneous syndrome
791:Majewski's polydactyly syndrome
1:
1365:Autosomal recessive disorders
1144:Multiple epiphyseal dysplasia
565:Hereditary multiple exostoses
509:Polyostotic fibrous dysplasia
441:Multiple epiphyseal dysplasia
58:osteosclerotic bone dysplasia
798:LĂ©riâWeill dyschondrosteosis
1391:
765:ConradiâHĂŒnermann syndrome
390:CamuratiâEngelmann disease
1335:
752:Chondrodysplasia punctata
737:Atelosteogenesis, type II
46:
37:
514:McCuneâAlbright syndrome
879:Osteogenesis imperfecta
662:Thanatophoric dysplasia
1370:Rare genetic syndromes
1194:Type XI collagenopathy
1030:EhlersâDanlos syndrome
981:EhlersâDanlos syndrome
961:Type II collagenopathy
890:EhlersâDanlos syndrome
631:AntleyâBixler syndrome
613:Growth factor receptor
360:Osteochondrodysplasias
91:This section is empty.
1313:UrbachâWiethe disease
1150:(types 2, 3, & 6)
992:SackâBarabas syndrome
896:(types 1, 2, & 7)
742:Diastrophic dysplasia
408:Metaphyseal dysplasia
175:10.1136/jmg.26.12.786
781:Fibrochondrogenesis
559:osteochondromatosis
497:Boomerang dysplasia
68:congenital disorder
56:(RNS), also called
1244:Bullous pemphigoid
915:Hypochondrogenesis
699:Hypochondrogenesis
303:External resources
75:Signs and symptoms
1347:
1346:
1268:
1267:
1260:Knobloch syndrome
1036:(types 1 & 2)
987:(types 3 & 4)
936:Marshall syndrome
931:Stickler syndrome
810:
809:
806:
805:
670:
669:
655:Hypochondroplasia
601:Maffucci syndrome
524:
523:
326:
325:
111:
110:
51:
50:
19:Medical condition
1382:
1340:fibrous proteins
1325:DFNA8/12, DFNB21
1229:
1226:
1218:
1215:
1211:Bethlem myopathy
1191:
1151:
1148:
1129:
1126:
1122:Fuchs' dystrophy
1073:
1070:
1062:
1059:
1055:Bethlem myopathy
1037:
1034:
988:
985:
957:Kniest dysplasia
952:
951:(Strudwick type)
949:
926:
923:
897:
894:
886:
883:
866:
861:Collagen disease
837:
830:
823:
814:
712:sulfation defect
679:collagen disease
618:
590:enchondromatosis
546:
535:chondrodystrophy
530:Chondrodysplasia
504:Opsismodysplasia
378:
353:
346:
339:
330:
248:
197:
196:
186:
154:
106:
103:
93:You can help by
86:
79:
42:
22:
1390:
1389:
1385:
1384:
1383:
1381:
1380:
1379:
1350:
1349:
1348:
1343:
1331:
1291:
1264:
1248:
1232:
1227:
1224:
1216:
1213:
1199:
1189:
1170:
1154:
1149:
1146:
1132:
1127:
1124:
1110:
1076:
1071:
1068:
1060:
1057:
1040:
1035:
1032:
1015:
1011:Alport syndrome
996:
986:
983:
966:
950:
947:
924:
921:
920:Achondrogenesis
900:
895:
892:
884:
881:
855:
841:
811:
802:
769:
746:
720:Achondrogenesis
703:
687:Achondrogenesis
666:
635:
607:
571:
537:
533:
520:
483:Other/ungrouped
478:
469:Osteopoikilosis
450:
422:
394:
371:
362:
357:
327:
322:
321:
298:
297:
259:
245:
230:81(5), 906â912.
201:
200:
169:(12): 786â788.
156:
155:
151:
146:
138:
129:
116:
107:
101:
98:
77:
20:
17:
12:
11:
5:
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1386:
1378:
1377:
1372:
1367:
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1352:
1351:
1345:
1344:
1336:
1333:
1332:
1330:
1329:
1328:
1327:
1315:
1310:
1308:Raine syndrome
1305:
1299:
1297:
1293:
1292:
1290:
1289:
1284:
1278:
1276:
1270:
1269:
1266:
1265:
1263:
1262:
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1246:
1240:
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1234:
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1198:
1197:
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1155:
1153:
1152:
1140:
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1098:
1093:
1087:
1085:
1078:
1077:
1075:
1074:
1063:
1051:
1049:
1042:
1041:
1039:
1038:
1026:
1024:
1017:
1016:
1014:
1013:
1007:
1005:
998:
997:
995:
994:
989:
977:
975:
968:
967:
965:
964:
954:
943:
938:
933:
928:
917:
911:
909:
902:
901:
899:
898:
887:
875:
873:
863:
857:
856:
853:scleroproteins
842:
840:
839:
832:
825:
817:
808:
807:
804:
803:
801:
800:
795:
794:
793:
783:
777:
775:
774:Other dwarfism
771:
770:
768:
767:
762:
756:
754:
748:
747:
745:
744:
739:
734:
729:
728:
727:
716:
714:
705:
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702:
701:
696:
695:
694:
683:
681:
672:
671:
668:
667:
665:
664:
659:
658:
657:
650:Achondroplasia
646:
644:
637:
636:
634:
633:
627:
625:
615:
609:
608:
606:
605:
604:
603:
598:
596:Ollier disease
585:
583:
573:
572:
570:
569:
568:
567:
554:
552:
550:Osteochondroma
543:
526:
525:
522:
521:
519:
518:
517:
516:
506:
501:
500:
499:
486:
484:
480:
479:
477:
476:
471:
466:
464:Raine syndrome
460:
458:
456:Osteosclerosis
452:
451:
449:
448:
443:
438:
432:
430:
424:
423:
421:
420:
415:
410:
404:
402:
396:
395:
393:
392:
386:
384:
375:
373:osteodystrophy
368:Osteodysplasia
364:
363:
358:
356:
355:
348:
341:
333:
324:
323:
320:
319:
307:
306:
304:
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273:
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251:Classification
244:
243:External links
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89:
87:
76:
73:
54:Raine syndrome
49:
48:
44:
43:
35:
34:
31:
27:
26:
25:Raine syndrome
18:
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13:
10:
9:
6:
4:
3:
2:
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1371:
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1279:
1277:
1275:
1271:
1261:
1258:
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1255:
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1241:
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1223:
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1209:
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1206:
1202:
1195:
1188:
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1179:
1177:
1173:
1167:
1164:
1163:
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1157:
1145:
1142:
1141:
1139:
1135:
1123:
1120:
1119:
1117:
1113:
1107:
1104:
1102:
1101:Bart syndrome
1099:
1097:
1094:
1092:
1089:
1088:
1086:
1083:
1079:
1067:
1064:
1056:
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1027:
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1022:
1018:
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990:
982:
979:
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819:
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815:
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788:
787:
784:
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779:
778:
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766:
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749:
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723:
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619:
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541:
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512:
511:
510:
507:
505:
502:
498:
495:
494:
493:
492:
488:
487:
485:
481:
475:
474:Osteopetrosis
472:
470:
467:
465:
462:
461:
459:
457:
453:
447:
444:
442:
439:
437:
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163:J. Med. Genet
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36:
32:
28:
23:
1337:
1317:
1307:
885:(types IâIV)
843:Diseases of
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557:
489:
463:
310:
286:
275:
263:
166:
162:
152:
139:
130:
121:
117:
102:October 2021
99:
95:adding to it
90:
60:, is a rare
57:
53:
52:
581:enchondroma
538:(including
30:Other names
1354:Categories
851:and other
400:Metaphysis
144:References
1338:see also
577:Chondroma
428:Epiphysis
382:Diaphysis
65:recessive
62:autosomal
1228:(type 2)
1217:(type 2)
1128:(type 1)
1072:(type 1)
1061:(type 1)
925:(type 2)
845:collagen
540:dwarfism
312:Orphanet
238:957â967.
234:271â276.
226:786â788.
127:Research
114:Genetics
1274:Laminin
849:laminin
725:type 1B
709:SLC26A2
293:C535282
272:: Q78.2
193:2614802
184:1015765
136:History
1253:COL18:
1237:COL17:
1225:
1214:
1204:COL12:
1190:
1175:COL11:
1159:COL10:
1147:
1125:
1069:
1058:
1033:
984:
948:
922:
893:
882:
692:type 2
676:COL2A1
282:259775
191:
181:
1319:TECTA
1296:Other
1137:COL9:
1115:COL8:
641:FGFR3
622:FGFR2
1082:COL7
1046:COL6
1021:COL5
1002:COL4
972:COL3
906:COL2
870:COL1
491:FLNB
317:1832
288:MeSH
277:OMIM
189:PMID
265:ICD
179:PMC
171:doi
97:.
1356::
847:,
315::
291::
280::
269:10
187:.
177:.
167:26
165:.
161:.
1196:)
1192:(
1084::
1048::
1023::
1004::
974::
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959:(
908::
872::
836:e
829:t
822:v
643::
624::
579:/
542:)
532:/
370:/
352:e
345:t
338:v
267:-
257:D
195:.
173::
104:)
100:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
