Table 3 of
Hutcheson, Mol Vis 2005;
11:501-508.Table 3 of
Hutcheson, Mol Vis 2005;
11:501-508.
Table 3. Norrie Disease sequence alterations identified in study subjects
These Norrie disease gene polymorphisms were found in our study subjects. These subjects were all African-American (AA) or Caucasian (C). Asterisks (*) indicate the same polymorphism was found in a parent of the affected child.
Patient number Study group Birth
(Original Genetic Sex/ and ROP weight Gestational
sample number) alteration Region Race findings (g) age (weeks)
-------------- ------------- ------ ---- ----------------- ------ -----------
1 (ROP19) mRNA position 3' UTR F/AA Affected; Stage 3 427 26
1572 G>A (threshold)
heterozygous
2 (ROP31)* mRNA position 3' UTR M/AA Affected; Stage 3 772 25
1253; 1 bp (threshold)
insertion
3 (ROP12) mRNA position 3' UTR F/AA Affected; Stage 3 720 25
824 G>A (prethreshold)
4 (CR0037) mRNA position 3' UTR M/AA Affected; Stage 3 1218 28
824 G>A (threshold)
5 (CR0024)* mRNA position 3' UTR M/AA Affected; Stage 3 539 28
1103 A>G (threshold)
6 (CR001)* mRNA position 5' UTR F/C Affected; Stage 3 633 27
28; 14 bp exon 1 (threshold)
deletion
7 (CR001-2nd mRNA position 5' UTR F/C Affected; Stage 3 633 27
polymorphism)* 298 T>C exon 2 (threshold)
heterozygous
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