Branchiootic Syndrome

BOR (Branchiootorenal) syndrome, which clinically overlaps with branchiootic syndrome, is characterized by multiple malformations clinically diagnosed by the following major criteria: second branchial arch anomalies, deafness, preauricular pits, auricular deformities and renal anomalies (ranging from mild to severe or complete absence of kidneys). Minor criteria include: external auditory canal anomalies, middle or inner ear anomalies, preauricular tags and others. To be diagnosed there must be 2 affected individuals in the family; or the individual must display 3 or more of the major criteria, or 2 major and 2 minor criteria. Both reduced penetrance and variable expressivity have been observed. The estimated prevalence of BOR syndrome is 1:40,000 in the general population and ~2% among profoundly deaf children. Hearing impairment can be mild to severe and can be conductive, sensorineural or mixed.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis

Ordering

315E
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89.
  2. Smith, R. Branchiootorenal Syndrome. (Mar 2008).
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349.
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online.
  5. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131.
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327.
  7. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095.

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differential diagnosis between other branchio and/or oto multiple malformation syndromes
  • Risk assessment
  • Prenatal diagnosis

Ordering

TA71
3 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

Billing

81479x1
No
Yes
  • 744.02 Other anomalies of external ear with impairment of hearing Atresia or stricture of auditory canal (external)
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 744.2 Other specified anomalies of ear
* For price inquiries please email zebras@genedx.com

References

  1. Chang E. et. al. (2004). Hum Mutat 23:582-89
  2. Smith, R. Branchiootorenal Syndrome. Disease Overview. In: GeneClinics: Clinical Genetic Information Resource [database online]
  3. Fraser F et. al. (1980) Am J Med Genet 7: 341-349
  4. Kochhar, A. et. al. (2008) Hum Mutat Mutation in Brief #999 Online
  5. Ruf, R. et. al. (2004) PNAS. 101(21):8090-8095
  6. Stockley, T. et al. (2008) Am J Med Genet 149A:322-327
  7. Sanggaard, K. et al. (2007) Eur J Hum Genet. 15:1121-1131

Forms and Documents

Test Details

ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-CO1, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN(DFNB31)
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.

Ordering

J806
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
  2. Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
  3. Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
  4. Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
  5. Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
  6. Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
  7. Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
  8. Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
  9. Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)