Mutation of the EYA1 gene in patients with branchio-oto syndrome

Acta Oto-Laryngologica

Volumn 123, Issue 2, 2003, Pages 279-282

  Yashima, Takatoshi ^a   Noguchi, Yoshihiro ^a   Ishikawa, Kinya ^a   Mizusawa, Hidehiro ^a   Kitamura, Ken ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Autosomal dominant disorder; Branchio oto renal syndrome; Branchio oto syndrome; Hereditary deafness

Indexed keywords

GLYCINE; SERINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; BRANCHIOOTO SYNDROME; BRANCHIOOTORENAL SYNDROME; CALORIC VESTIBULAR TEST; CASE REPORT; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; EYA1 GENE; FEMALE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; IMAGE ANALYSIS; KIDNEY MALFORMATION; NUCLEOTIDE SEQUENCE; PREAURICULAR FISTULA; PRIORITY JOURNAL; PURE TONE AUDIOMETRY;

ADULT; ALLELES; BRANCHIO-OTO-RENAL SYNDROME; DEAFNESS; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN-TYROSINE-PHOSPHATASE; TRANS-ACTIVATORS;

EID: 0037242560     PISSN: 00016489     EISSN: None     Source Type: Journal    
DOI: 10.1080/0036554021000028103     Document Type: Conference Paper

References (16)

1. Smith RJH, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord 1998; 31: 411-21.
2. 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: 341-9.
3. Chen A, Francis M, Ni L, et al. Phenotypic manifestations of branchiootorenal syndrome. Am J Med Genet 1995; 58: 365-70.
4. Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet 1997; 15: 157-64.
5. Vincent C, Kalatzis V, Abdelhak S, et al. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 1997; 5: 242-6.
6. Abdelhak S, Kalatzis V, Heilig R, et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997; 6: 2247-55.
7. Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M. Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet 2000; 37: 623-7.
8. Rickard S, Parker M, van't Hoff W, et al. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 2001; 108: 398-403.
9. Azuma N, Hirakiyama A, Inoue T, et al. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000; 9: 363-6.
10. Usami S, Abe S, Shinkawa S, et al. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. J Hum Genet 1999; 44: 261-5.
11. Kumar S, Kimberling WJ, Weston MD, et al. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum Mutat 1998; 11: 443-9.
12. Rodriguez-Soriano J, Bilbao AVJR, Castaño L. Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. Pediatr Nephrol 2001; 16: 550-3.
13. Fukuda S, Kuroda T, Chida E, et al. A family affected by branchio-oto syndrome with EYA1 mutations. Auris Nasus Larynx 2001; 28: S7-S11.
14. Kumar S, Marres HAM, Cremers CWRJ, et al. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am J Hum Genet 1998; 76: 395-401.
15. Kumar S, Deffenbacher K, Marres HAM, et al. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome. Am J Hum Genet 2000; 66: 1715-20.
16. Slack RWT, Phelps PD. Familial mixed deafness with brachial arch defects (earpits-deafness syndrome). Clin Otolaryngol 1985; 10: 271-7.