Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Branchiootic syndrome 3

Branchiootic syndrome 3 is an autosomal dominant disorder caused by mutations of the SIX1 gene.

Systematic

Branchiootic syndrome
Branchiootic syndrome 1
Branchiootic syndrome 3
SIX1

References:

1.

Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.

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2.

Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

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3.

Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

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4.

Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

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5.

OMIM.ORG article

Omim 608389 [^]
Update: April 29, 2019