67:
203:, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. The varying clinical expression of the disease between different families suggests that multiple loci may be involved. In 1992, using genetic linkage studies, the BOR gene was identified on chromosome 8, Subsequently, another locus on human chromosome 14 was identified, and several mutations were reported in genes EYA1, SIX1, and SIX5. SINX1 is involved in many facets of
233:
43:
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2397:
2407:
1101:
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of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner with variable clinical manifestations affecting branchial, renal, and auditory development. Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an
1042:
223:
Diagnosis of BO syndrome or BOR syndrome is clinical, i.e. based on observing an appropriate combination of symptoms. Only about half of patients have a detectable genetic abnormality, mostly in the EYA1 gene, SIX1 gene or the SIX5 gene.
445:
Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ (1997). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing".
240:
The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the
598:
Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW (October 1992). "Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family".
1147:
424:
695:"Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations"
843:
166:
along the sides of their neck. In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome).
527:
Kumar S, Marres HA, Cremers CW, Kimberling WJ (April 1998). "Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13".
733:
588:
Smith RJ (1993). Adam MP, Everman DB, Mirzaa GM, Pagon RA (eds.). Branchiootorenal
Spectrum Disorder. Seattle (WA): University of Washington, Seattle. PMID 20301554
1140:
186:(approximately 40 percent of those born with this condition have a mutation in the EYA1 gene). Many different abnormalities in these genes have been identified.
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1396:
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A specialist should observe any kidney problems. Surgical repair may be needed depending on the degree of a defect or problem, whether a transplant or
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Morisada N, Nozu K, Iijima K (June 2014). "Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan".
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774:"Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes"
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150:. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular
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is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or
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636:"SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes"
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Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. (February 2011).
249:
208:
155:
134:
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (
492:. In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, et al. (eds.).
1106:
651:
260:
The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in
42:
2232:
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1999:
1929:
1748:
1579:
1431:
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800:
773:
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635:
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729:
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2131:
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1706:
1691:
1637:
1351:
1125:
823:
954:"A family with the branchio-oto-renal syndrome: clinical and genetic correlations"
1073:
988:
634:
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (May 2004).
563:
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2021:
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Proceedings of the
National Academy of Sciences of the United States of America
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Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance.
2340:
2082:
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1941:
1919:
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953:
660:
979:
952:
Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC (June 2002).
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809:
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541:
10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m
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713:
163:
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Mehdizadeh T, Majumdar HD, Ahsan S, Tavares AL, Moody SA (June 2021).
373:
Genetic and Rare
Diseases Information Center (GARD) – an NCATS Program
1046:
123:
864:
Izzedine H, Tankere F, Launay-Vacher V, Deray G (February 2004).
174:
The cause of branchio-oto-renal syndrome are mutations in genes,
1062:
760:
183:
179:
175:
1596:
1129:
341:. U.S. National Library of Medicine. 2015-11-23. Archived from
126:, ears, and neck. It is also known as Melnick-Fraser syndrome.
866:"Ear and kidney syndromes: molecular versus clinical approach"
264:. A 2014 review found 250 such cases in the country of Japan.
242:
1592:
154:), or further malformation or absence of the outer ear (
990:
1024:
565:
2283:
2221:
1982:
1910:
1865:
1774:
1645:
1630:
1471:
1450:
1387:
1317:
1244:
1164:
1028:
496:. Seattle (WA): University of Washington, Seattle.
102:
92:
84:
74:
54:
26:
21:
832:. Lippincott Williams & Wilkins. p. 53.
207:and is important in the normal formation of many
369:"Branchiootorenal syndrome | Disease | Overview"
215:, including the ears, and kidneys before birth.
987:Snow JB, Wackym PA, Ballenger JJ (2009-01-01).
307:NORD (National Organization for Rare Disorders)
1608:
1141:
829:Cochlear Implants: Principles & Practices
8:
1897:Reproductive endocrinology and infertility
1642:
1615:
1601:
1593:
1148:
1134:
1126:
1025:
761:Branchiootorenal Syndrome 1; BOR1 - 113650
65:
41:
18:
2238:Bachelor of Medicine, Bachelor of Surgery
969:
881:
799:
789:
669:
659:
231:
88:Mutations in genes, EYA1, SIX1, and SIX5
483:
481:
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477:
289:
329:
327:
297:
295:
293:
98:Laboratory test results, Physical exam
958:Nephrology, Dialysis, Transplantation
363:
361:
359:
7:
2376:
2137:Physical medicine and rehabilitation
529:American Journal of Medical Genetics
490:"Branchiootorenal Spectrum Disorder"
2386:
757:Online Mendelian Inheritance in Man
494:Branchiootorenal Spectrum Disorders
2273:Medical Scientist Training Program
158:). Malformation or absence of the
106:Branchial fistula may need surgery
14:
1397:Bannayan–Riley–Ruvalcaba syndrome
2405:
2395:
2385:
2375:
2366:
2365:
1099:
883:10.1111/j.1523-1755.2004.00390.x
778:Journal of Developmental Biology
2442:Syndromes affecting the kidneys
2406:
1007:from the original on 2023-01-12
846:from the original on 2023-01-12
739:from the original on 2022-11-13
568:. Academic Press. p. 269.
508:from the original on 2021-03-09
427:from the original on 2022-11-13
405:. New York: Marcel Dekker Inc.
313:from the original on 2020-09-26
2263:Doctor of Osteopathic Medicine
1697:Oral and maxillofacial surgery
1204:Bonnet–Dechaume–Blanc syndrome
279:Branchio-oculo-facial syndrome
1:
1199:Sakati–Nyhan–Tisdale syndrome
399:"Branchio-oto-renal Syndrome"
303:"Branchio Oto Renal Syndrome"
2437:Autosomal dominant disorders
2243:Bachelor of Medical Sciences
2010:Neurosurgical anesthesiology
1437:Tatton-Brown–Rahman syndrome
1407:Benign symmetric lipomatosis
2432:Syndromes affecting hearing
1527:Branchio-oto-renal syndrome
1402:Beckwith–Wiedemann syndrome
1117:Branchio-oto-renal syndrome
335:"Branchiootorenal syndrome"
113:Branchio-oto-renal syndrome
22:Branchio-oto-renal syndrome
2463:
1499:Zimmermann–Laband syndrome
1451:Laurence–Moon–Bardet–Biedl
1412:Klippel–Trénaunay syndrome
1362:Caudal regression syndrome
1337:Klippel–Trénaunay syndrome
1299:Smith–Lemli–Opitz syndrome
1269:Cornelia de Lange syndrome
274:Lachiewicz–Sibley syndrome
2361:
1347:Rubinstein–Taybi syndrome
49:
40:
35:Branchiootorenal syndrome
2197:Transplantation medicine
2088:Clinical neurophysiology
2005:Obstetric anesthesiology
1925:Interventional radiology
1685:Digestive system surgery
1417:Neurofibromatosis type I
1304:Snyder–Robinson syndrome
1254:1q21.1 deletion syndrome
1194:Saethre–Chotzen syndrome
907:Pediatrics International
601:Human Molecular Genetics
562:Little MH (2015-08-06).
2068:Intensive care medicine
2042:Mass gathering medicine
1887:Maternal–fetal medicine
1327:Adducted thumb syndrome
1289:Silver–Russell syndrome
661:10.1073/pnas.0308475101
488:Smith RJ (1993-01-01).
401:. In Willems PJ (ed.).
339:Genetics Home Reference
142:kidneys with resultant
1660:Cardiothoracic surgery
1463:Laurence–Moon syndrome
1259:Aarskog–Scott syndrome
1214:Baller–Gerold syndrome
1157:Congenital abnormality
460:10.1089/gte.1997.1.243
237:
144:chronic kidney disease
2311:Personalized medicine
2170:Reproductive medicine
2095:Occupational medicine
2049:Evolutionary medicine
1458:Bardet–Biedl syndrome
1342:Nail–patella syndrome
1234:Pierre Robin sequence
1174:Acrocephalosyndactyly
971:10.1093/ndt/17.6.1014
411:10.1201/9780203913062
235:
205:embryonic development
2331:Traditional medicine
2291:Alternative medicine
2158:Addiction psychiatry
1972:Transfusion medicine
1967:Medical microbiology
1882:Gynecologic oncology
1734:Reproductive surgery
1389:Overgrowth syndromes
870:Kidney International
403:Genetic Hearing Loss
2353:History of medicine
2336:Veterinary medicine
2143:Preventive medicine
1995:Adolescent medicine
1837:Infectious diseases
1377:VACTERL association
652:2004PNAS..101.8090R
613:10.1093/hmg/1.7.491
236:Otitis media -acute
2301:Molecular oncology
2258:Doctor of Medicine
2248:Master of Medicine
2165:Radiation oncology
2037:Emergency medicine
1990:Addiction medicine
1957:Clinical chemistry
1952:Clinical pathology
1744:Transplant surgery
1702:Orthopedic surgery
1680:Colorectal surgery
1332:Holt–Oram syndrome
1224:Goldenhar syndrome
1184:Carpenter syndrome
791:10.3390/jdb9030025
714:10.1002/humu.21402
238:
130:Signs and symptoms
117:autosomal dominant
2419:
2418:
2253:Master of Surgery
2217:
2216:
2202:Tropical medicine
2148:Prison healthcare
2063:Hospital medicine
2027:Disaster medicine
2017:Aviation medicine
1832:Hospital medicine
1739:Surgical oncology
1724:Pediatric surgery
1718:
1665:Endocrine surgery
1590:
1589:
1487:Feingold syndrome
1274:Dubowitz syndrome
1264:Cockayne syndrome
1189:Pfeiffer syndrome
1094:
1093:
919:10.1111/ped.12357
646:(21): 8090–8095.
262:Western countries
110:
109:
94:Diagnostic method
80:Ear abnormalities
16:Medical condition
2454:
2409:
2408:
2399:
2389:
2388:
2379:
2378:
2369:
2368:
2073:Medical genetics
2058:General practice
1935:Nuclear medicine
1810:Gastroenterology
1766:Vascular surgery
1716:
1643:
1617:
1610:
1603:
1594:
1571:Donohue syndrome
1547:Timothy syndrome
1427:Proteus syndrome
1422:Perlman syndrome
1284:Robinow syndrome
1229:Moebius syndrome
1150:
1143:
1136:
1127:
1103:
1102:
1026:
1015:
1013:
1012:
983:
973:
964:(6): 1014–1018.
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902:
896:
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861:
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820:
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397:Kumar S (2004).
394:
388:
387:
385:
384:
375:. Archived from
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354:
353:
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350:
331:
322:
321:
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120:genetic disorder
70:
69:
61:Medical genetics
45:
19:
2462:
2461:
2457:
2456:
2455:
2453:
2452:
2451:
2422:
2421:
2420:
2415:
2357:
2346:Chief physician
2279:
2224:
2213:
2207:Travel medicine
2192:Sports medicine
2175:Sexual medicine
2115:Palliative care
2110:Pain management
2054:Family medicine
2032:Diving medicine
1978:
1906:
1868:
1861:
1777:
1770:
1729:Plastic surgery
1675:General surgery
1655:Cardiac surgery
1636:
1634:
1626:
1621:
1591:
1586:
1559:Marfan syndrome
1543:Keutel syndrome
1531:CHARGE syndrome
1515:Fraser syndrome
1473:
1472:Combined/other,
1467:
1446:
1442:Weaver syndrome
1383:
1313:
1309:Turner syndrome
1294:Seckel syndrome
1279:Noonan syndrome
1240:
1160:
1154:
1124:
1123:
1122:
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1100:
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945:Further reading
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517:|updated, 2015|
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448:Genetic Testing
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2447:Rare syndromes
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2284:Related topics
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1749:Trauma surgery
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1712:Otolaryngology
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1580:Fryns syndrome
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1502:
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1466:
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1432:Sotos syndrome
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1186:
1181:
1179:Apert syndrome
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1029:Classification
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1021:External links
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948:
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943:
941:
940:
913:(3): 309–314.
897:
876:(2): 369–385.
856:
838:
826:(2009-01-01).
815:
764:
749:
708:(2): 183–190.
702:Human Mutation
685:
626:
607:(7): 491–495.
590:
581:
574:
554:
535:(5): 395–401.
519:
473:
454:(4): 243–251.
437:
419:
389:
355:
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276:
269:
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257:
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229:
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191:
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148:kidney failure
131:
128:
122:involving the
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36:
32:
29:
25:
20:
2321:Rural health
2306:Nanomedicine
1857:Rheumatology
1788: /
1707:Hand surgery
1692:Neurosurgery
1564:
1552:
1536:
1526:
1520:
1504:
1492:
1480:
1352:Gastrulation
1166:Craniofacial
1115:
1114:
1113:profile for
1110:
1078:
1067:
1056:
1041:
1009:. Retrieved
993:. PMPH-USA.
989:
961:
957:
910:
906:
900:
873:
869:
859:
848:. Retrieved
828:
818:
781:
777:
767:
752:
741:. Retrieved
705:
701:
688:
643:
639:
629:
604:
600:
593:
584:
564:
557:
532:
528:
522:
510:. Retrieved
493:
451:
447:
440:
429:. Retrieved
402:
392:
381:. Retrieved
377:the original
372:
347:. Retrieved
343:the original
338:
315:. Retrieved
306:
259:
256:Epidemiology
247:
239:
222:
193:
173:
133:
115:(BOR) is an
112:
111:
34:
31:BOR syndrome
30:
2391:Wikiproject
2180:Venereology
2125:Neonatology
2022:Dermatology
1877:Gynaecology
1869:gynaecology
1852:Pulmonology
1670:Eye surgery
1632:Specialties
1474:known locus
1372:Sirenomelia
252:is needed.
136:hypoplastic
27:Other names
2426:Categories
2153:Psychiatry
2139:(PM&R)
2132:Phlebology
2120:Pediatrics
1947:Anatomical
1912:Diagnostic
1892:Obstetrics
1842:Nephrology
1827:Hematology
1822:Geriatrics
1815:Hepatology
1800:Cardiology
1790:Immunology
1367:Ectromelia
1080:DiseasesDB
1011:2015-11-29
850:2020-11-25
824:Niparko JK
743:2022-11-13
512:2017-08-30
431:2022-11-13
383:2015-11-29
349:2015-11-29
317:2015-11-29
285:References
160:middle ear
2341:Physician
2225:education
2083:Neurology
2078:Narcology
1942:Pathology
1920:Radiology
1795:Angiology
1759:Andrology
1576:Multiple
1159:syndromes
784:(3): 25.
228:Treatment
219:Diagnosis
190:Mechanism
103:Treatment
56:Specialty
2371:Category
1847:Oncology
1778:medicine
1776:Internal
1624:Medicine
1356:mesoderm
1219:Cyclopia
1005:Archived
980:12032190
935:40930806
927:24730701
892:14717907
844:Archived
810:34208995
759:(OMIM):
734:Archived
730:25826641
722:21280147
680:15141091
506:Archived
502:20301554
468:10464653
425:Archived
311:Archived
268:See also
250:dialysis
201:autosome
196:genetics
164:fistulae
76:Symptoms
2411:Outline
2381:Commons
2326:Therapy
2223:Medical
1786:Allergy
1754:Urology
1647:Surgery
1107:Scholia
1074:D019280
801:8293042
648:Bibcode
621:1307249
549:9556298
213:tissues
124:kidneys
2401:Portal
2268:MD–PhD
1210:Other
1109:has a
1063:113650
997:
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466:
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209:organs
182:, and
140:absent
85:Causes
63:
1983:Other
1319:Limbs
1111:topic
1085:32599
1052:Q87.0
931:S2CID
737:(PDF)
726:S2CID
698:(PDF)
170:Cause
156:pinna
138:) or
1069:MeSH
1058:OMIM
995:ISBN
976:PMID
923:PMID
888:PMID
834:ISBN
806:PMID
718:PMID
676:PMID
617:PMID
570:ISBN
545:PMID
498:PMID
464:PMID
415:ISBN
211:and
194:The
184:SIX5
180:SIX1
176:EYA1
152:tags
1717:ENT
1635:and
1043:ICD
966:doi
915:doi
878:doi
796:PMC
786:doi
710:doi
666:PMC
656:doi
644:101
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537:doi
456:doi
407:doi
243:ear
146:or
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
