EYA1-Gen
Das vom EYA1-Gen kodierte Protein spielt eine wichtige Rolle bei der Entwicklung von Aug, Ohr, Kiemenbögen und Niere. Mutationen führen zur autosomal dominanten Branchio-Oto-Renalen Dysplasie 1.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
None (1969) Familial hearing loss associated with branchial fistulas.
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2. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
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3. |
Rickard S et al. (2000) Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
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4. |
Estefanía E et al. (2006) Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
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5. |
Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.
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6. |
Olavarrieta L et al. (2008) Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
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7. |
Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
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8. |
Abdelhak S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
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9. |
Kumar S et al. (1998) Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
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10. |
NCBI article
NCBI 2138
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11. |
OMIM.ORG article
Omim 601653
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12. |
Orphanet article
Orphanet ID 121651
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Update: 14. August 2020