Table 2 Exon duplications identified in the ATP7A gene
From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Patient (reference number) | Duplication:Mutation (identified on genomic DNA) | Phenotype | Mutation origin |
|---|---|---|---|
P1 (95287) | Ex3_4dup: c.121-?_1336+?dup | OHS | Unknown |
P2 (96220) | Ex5_6dup: c.1337-?_1707+?dup | Atypical | De novo |
P3 (93250) | Ex6_7dup: c.1544-?_1869+?dup | Atypical | Mother carrier |
P4 (9926) | Ex 13_14dup: c.2627-?_2916+?dup | Atypical | Mother carrier |
P5 (96267) | Ex16_17dup: c.3112-?_3511+?dup | Atypical | Unknown |
P6 (92251) | Ex6_7dup: c.1544-?_1869+?dup | Unknown clinical phenotype | Unknown |
P7(95288) | Ex3_5dup: c.121-?_1543+?dup | Classical | Unknown |
P8 (95265) | Ex5_7dup: c.1337-?_1869+?dup | Classical | Unknown |
P9 (93226) | Ex3_13dup: c.121-?_2781+?dup | Classical | Mother carrier |
P10 (96205) | Ex3_17dup: c.121-?_3511+?dup | Classical | De novo |
P11 (94249) | Ex6_15dup: c.1544-?_3111+?dup | Classical | Mother carrier |
P12 (94253) | Ex7_10 dup: c.1708-?_2406+?dup | Classical | Unknown |
P13 (95245) | Ex7_12dup: c.1708-?_2626+?dup | Classical | Unknown |
P14 (91211) | Ex7_12 dup: c.1708-?_2626+?dup | Classical | Unknown |
P15 (93261) | Ex7_14 dup: c.1708-?_2916+?dup | Classical | Mother carrier |
P16 (91212) | Ex8_12dup: c.1870-?_2626+?dup | Classical | Mother carrier |
P17 (9620) | Ex 8_12 dup: c.1870-?_2626+?dup | Classical | Mother carrier |
P18 (92238) | Ex8_14dup: c.1870-?_2916+?dup | Classical | Unknown |
P19 (9322) | Ex8_15dup: c.1870-?_3111+?dup | Classical | De novo |
P20 (96291) | Ex8_17dup: c.1870-?_3511+?dup | Classical | Mother carrier |