Download Branchio-oto-renal syndrome (BOR)

Branchio-oto-renal syndrome (BOR)
Contact details
Molecular Genetics Service
Level 6, York House
Introduction
Branchio-oto-renal syndrome (BOR) (MIM 113650) is an autosomal dominant
condition that manifests with the following phenotypes:
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Hearing loss
Preauricular pits (“ear pits”)
Pinnae abnormalities
Samples required
Branchial fistulae (lateral fistula of the neck)
•
5ml venous blood in plastic EDTA
bottles (>1ml from neonates)
Renal anomalies
•
Prenatal testing must be arranged
in advance, through a Clinical
Genetics department if possible.
•
Amniotic fluid or CV samples
should be sent to Cytogenetics for
dissecting and culturing, with
instructions to forward the sample
to the Regional Molecular Genetics
laboratory for analysis
BOR has an incidence of approximately 1/40,000, accounts for about 2% of
profoundly deaf children, and can be caused by mutations in the EYA1 gene or, more
rarely, in SIX1 or SIX5 genes. EYA1 has 16 exons with most mutations identified in
exons 8-16. SIX1 and SIX5 have 2 and 3 coding exons respectively.
•
A completed DNA request card
should accompany all samples
Patient details
To facilitate accurate testing and
reporting please provide patient
demographic details (full name, date of
birth, address and ethnic origin), details
of any relevant family history and full
contact details for the referring clinician
Referrals
Prospective patients should have at least three of the four following major features:
hearing loss, branchial defects, ear pits and renal anomalies.
Asymptomatic (carrier) testing can be offered to relatives of affected patients once a
disease causing mutation has been identified.
Prenatal testing
Prenatal testing is available for families in whom specific mutations have been
identified - please contact the laboratory to discuss.
Service offered
Testing involves MLPA analysis of the EYA1 gene to identify larger deletions and
duplications and mutation screening of the 16 exons (including alternative exon 1) of
the EYA1 gene.
Patients testing negative for EYA1 mutations can be tested for mutations in the SIX1
and SIX5 genes by sequencing analysis.
Technical
Dosage analysis is by Multiplex Ligation-dependent Probe Amplification (MLPA)
analysis. Mutation screening is carried out by direct sequencing.
Target reporting time
EYA1 MLPA analysis and mutation screening of exons 1-16 takes 8 weeks.
SIX1 and SIX5 analysis takes 8 weeks.
Mutation-specific tests take 2 weeks.
Please contact the laboratory for urgent cases.
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