Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Branchio-Oto-Renale Dysplasie 1
EYA1
Branchiootische Syndrom Typ 1
EYA1

Referenzen:

1.

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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2.

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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3.

Wallace MR et al. (1991) A de novo Alu insertion results in neurofibromatosis type 1.

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4.

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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5.

Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

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6.

Rowley PT et al. (1969) Familial hearing loss associated with branchial fistulas.

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7.

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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8.

Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.

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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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