The above mutation was detected by DGGE and identified by direct sequencing using two different sequencing kits (both strands) in a patient with CUAVD. This mutation creates an MboII restriction site. This patient was also found to carry G551D.
Contributors
Jézéquel P
1995-03-15
Institute
Université de Rennes I,
France
Submitted Phenotype Details
This mutation was found in two male patients (30y and 34y). Both have PS and negative sweat-chloride tests.
Male 30y: moderate lung disease and CBAVD, R117H was found on the other allele.
Male 34y: no lung disease, CUAVD and hydrocele. G551D was found on the other allele.
(Jezequel et all 1996 and pers. corr. Dubourg)
Reference
Jézéquel (NL#65)
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The Database was last updated at Apr 25, 2011
