EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-04

AUTHORS

Michiyo Okada, Rika Fujimaru, Noriko Morimoto, Kenichi Satomura, Yoshikazu Kaku, Kazuo Tsuzuki, Kandai Nozu, Torayuki Okuyama, Kazumoto Iijima

ABSTRACT

We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and eight had deafness and renal malformations without branchial fistula (BOR-related conditions). We analyzed all exons and exon-intron boundaries of EYA1 and SIX1 using the polymerase chain reaction (PCR) direct sequencing, and characterized their mutations. In some patients, analysis of mRNA by reverse transcription (RT)-PCR was performed to examine whether the mutation affects the mRNA splicing. We identified five novel disease-causing heterozygous EYA1 mutations in five patients with BOR syndrome (two familial and three sporadic, 5/7=71%), but EYA1 and SIX1 mutations were not detected in the other two patients with BOR syndrome or any of the patients with BOR-related conditions. The detected EYA1 mutations were two nonsense mutations, two splicing acceptor-site mutations, and a point mutation (G>T) of the first base of exon 10. Analysis of mRNA by RT-PCR direct sequencing revealed that the latter point mutation led to the skipping of exon 10. In conclusion, (1) EYA1 mutations are a major cause of BOR syndrome in Japanese, (2) EYA1 and SIX1 mutations were not a major cause of BOR-related conditions, (3) we demonstrated for the first time that the point mutation (G>T) of the first base of the exon in EYA1 gene induced exon skipping. More... »

PAGES

475-481

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-006-0041-6

DOI

http://dx.doi.org/10.1007/s00467-006-0041-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022935336

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16491411


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