A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome
Author:
Affiliation:
1. Children's Hospital of Fudan University
2. Institutes of Biomedical Sciences of Fudan University
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/7/1/7_2017.01075/_pdf
Reference30 articles.
1. 1. Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. Am J Med Genet A. 2007; 143A:1671-1678.
2. 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; 7:341-349.
3. 3. 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. Nat Genet. 1997; 15:157-164.
4. 4. Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014; 85:1429-1433.
5. 6. Wang SH, Wu CC, Lu YC, Lin YH, Su YN, Hwu WL, Yu IS, Hsu CJ. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. Laryngoscope. 2012; 122:1130-1136.
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