Developmental or degenerative-- XXXX gene mutations in two patients with enhanced S cone syndrome.

@entity2000 @entity851 @entity14782 @entity72528 @entity72527 @entity179 @entity32915 @entity74 @entity72529 @entity72530
PURPOSE: Enhanced S Cone Syndrome is a rare @entity74 characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity ( @entity14782 ) and by variable degrees of @entity2000 in different families. The causative gene, @entity32915 ( @entity32915 ), controls the developmental sequence for rods and cones. The purpose of this study was to compare the nature and implications of mutations in two subjects with Enhanced S Cone Syndrome who have significantly different degrees of @entity179 . METHODS: A direct sequencing approach was used to identify the mutations. Genomic DNA was amplified from all the exons of @entity32915 and used as a template for sequencing. Of the two families studied, Case 1 is of Persian ethnicity while Case 2 is Brazilian. A total of six individuals within the two families were studied. RESULTS: Case 1 (original propositus of the syndrome) has the characteristic developmental rod/cone abnormality with large amplitude electroretinogram responses and no @entity2000 . She was homozygous for a novel mutation, @entity72527 ( @entity72528 ), which lies entirely within the P-box for this gene. By comparison, Case 2 had @entity14782 with @entity2000 and low electroretinogram signals. She was a compound heterozygote for @entity72529 ( @entity72530 ), mutations that have been reported previously. Her second mutation overlaps that of Case 1 within the P-box. CONCLUSIONS: The novel in-frame homozygous deletion of Case 1, within the P-box motif of the DNA binding domain, caused a @entity851 without @entity2000 . Case 2, with more traditional @entity14782 with @entity2000 , was a compound heterozygote where one allele had a similar P-box deletion but the other was a splicing defect. Case 1 is the first reported homozygous deletion within the P-box. This is the first report of @entity32915 mutations in a Persian and a Brazilian family.
