What causes branchio-oto-renal syndrome?
The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene). Many different abnormalities in these genes have been identified.
Is BOR syndrome hereditary?
BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of cases, an affected person inherits the mutation from one affected parent .
Who discovered branchio-oto-renal syndrome?
BOR syndrome was first described in 1975 by Melnick et al. and it is characterized by hearing loss, renal anomalies and branchial cysts or fistulae [17]. Renal abnormalities are present in 66% of affected individuals, and about 6% of them progress to renal failure.
Is the BOR syndrome the same as branchiootic syndrome?
Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
How is the diagnosis of BOR syndrome made?
Diagnosis of BO syndrome or BOR syndrome is clinical, ie based on observing an appropriate combination of symptoms . Only about half of patients have a detectable genetic abnormality, mostly in the EYA1 gene, SIX1 gene or the SIX5 gene.
How is Bor / Bos syndrome an autosomal dominant disorder?
BOR/BOS syndrome is inherited as an autosomal dominant disorder. Dominant genetic disorders occur when one copy of a gene is abnormal and this abnormal copy results in the appearance of the disease.
How many people are affected by Bor / BO syndrome?
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder.