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.



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