CASE REPORT OF A NOVEL MUTATION OF THE EYA1 GENE IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H
*Corresponding Author: Dr. Besart Merovci, Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo. Tel: +377-44-161-538. E-mail: m_besart@hotmail.com
page: 91

REFERENCES

1. Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC. A family with the branchio-oto-renal syndrome: Clinical and genetic correlations. Nephrol Dial Transplant. 2002; 17(6): 1014-1018. 2. Misra M, Nolph KD. Renal failure and deafness: Branchio-oto-renal syndrome. Am J Kidney Dis. 1998; 32(2): 334-337. 3. Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet. 1980; 7(3): 341-349. 4. Stinckens C, Standaert L, Casselman JW, Huygen PL, Kumar S, Van de Wallen J, et al. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol. 2001; 59(3): 163-172. 5. Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, et al. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004; 23(6): 582-589. 6. Fraser FC, Ling D, Clogg D, Nogrady B. Genetic aspects of the BOR syndrome Branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet. 1978; 2(3): 241-252. 7. Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW. Autosomal dominant branchio- oto-renal syndrome Localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum Mol Genet. 1992; 1(7): 491-495. 8. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997; 15(2): 157-164. 9. Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, et al. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BOR. Hum Mutat. 2008; 29(4): 565-570. 10. Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007; 80(4): 800-804. 11. Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, et al. Branchio-oto-renal syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007; 15(11): 1121-1131. 12. Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, et al. Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 2008; 29(4): 537-544. 13. Lindau TA, Cardoso AC, Rossi NF, Giacheti CM. Anatomical changes and audiological profile in branchio- oto-renal syndrome: A literature review. Int Arch Otorhinolaryngol. 2014; 18(1): 68-76.



Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006