Pendred Syndrome

Mutations in the SLC26A4 gene have been associated with two autosomal recessive disorders, Pendred syndrome and DFNB4 non-syndromic hearing loss. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 5-10% of hereditary hearing loss. The Pendred syndrome phenotype includes bilateral sensorineural hearing loss, which is usually severe to profound at birth, temporal bone abnormalities, vestibular abnormalities, and thyroid dysfunction, which usually leads to goiter formation in late childhood to early adulthood. The degree of hearing loss and thyroid disease phenotype is highly variable within families with Pendred syndrome. DFNB4 non-syndromic hearing loss is characterized by enlarged vestibular aqueduct and temporal bone abnormalities, without the thyroid phenotype.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differential diagnosis from other types of hearing loss
  • Carrier testing in siblings or other relatives

Ordering

TB03
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81406x1
No
Yes
  • 241.1 Nontoxic multinodular goiter Multinodular goiter (nontoxic)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Smith, R. and Van Camp, G. (Updated April 2, 2009). Pendred syndrome/DFNB4. In: GeneReviews at GeneTests: http://www.genetests.org.
  2. Napiontek, U. et al. (2004) J Clin Endocrinol Metab 89(11):5347-5351.
  3. Anwar, S. et al. (2009) J Hum Genet 54(5):266-270.
  4. Yang, T. et al. (2007) Am J Hum Genet 80:1055-1063.
  5. Pera, A. et al. (2008) Eur J Hum Genet 16:888-896.
  6. Campbell, C. et al. (2001) Hum Mutat 17:403-411.
  7. Tsukamoto, K. et al. (2003) Eur J Hum Genet 11:916-922.

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)