Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

SIX homeobox 5

The gene SIX5 encodes a transcription factor that combines with EYA1 to activate several genes required to develop eye, ear, branchial arches, and kidney. Mutations in these two genes cause a similar clinical picture. Branchiootorenal dysplasia syndrome 2 is autosomal dominant.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Branchiootorenal dysplasia 2
SIX5

References:

1.

Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

[^]
2.

Boucher CA et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.

[^]
3.

Orphanet article

Orphanet ID 138472 [^]
4.

NCBI article

NCBI 147912 [^]
5.

OMIM.ORG article

Omim 600963 [^]
6.

Wikipedia article

Wikipedia EN (SIX5) [^]
Update: April 29, 2019