Table 7 of Rosenberg, Mol Vis 2007; 13:1962-1969.


Table 7. Distribution according to phenotype among 27/161 individuals with the N965S mutation, ABCA4 variant in the second allele, and age of onset

This table shows the age of disease onset related to the second allele in patients with at least one N965S allele. The four patients homozygous for N965S had age of onset between 13 and 18 years. In 11 compound heterozygous patients the age of onset varies between 5 and 39 years, probably reflecting the impact on clinical seriousness of the second mutation.

Fraction of patients with
 N965S mutation within         Second mutation
 each phenotype group           (N patients)       Age of onset (years)
-------------------------   --------------------   --------------------
1 (0/29)
-------------------------   --------------------   --------------------
2 (17/61)                   V256V (1)              9
                            L541P/A1038 (1)        9
                            R681X (1)              13
                            c.2588G>C(3)           20, 25, 33
                            c.2588G>C/R219T (1)    27
                            N965S (1)              15
                            E1087K/R1898H (1)      5
                            R1108C (1)             14
                            H1406Y (1)             8
                            Q1667K (1)             34
                            Unknown (5)            8, 9, 11, 15, 19
-------------------------   --------------------   --------------------
3a (1/11)                   R681X (1)              11
-------------------------   --------------------   --------------------
3b (8/31)                   L541P/A1038V (1)       10
                            R681X (1)              11
                            N965S (1)              18
                            c.5585-10T>C (1)       8
                            c.5584+6T>C (1)        39
                            Q1412X (1)             18
                            Unknown (2)            7, 11
-------------------------   --------------------   --------------------
4 (1/8)                     N965S (1)              13
-------------------------   --------------------   --------------------
5a (1/10)                   N965S (1)              13
-------------------------   --------------------   --------------------
5b (0/11)
-------------------------   --------------------   --------------------

Rosenberg, Mol Vis 2007; 13:1962-1969 <http://www.molvis.org/molvis/v13/a221/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535