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Table 1 CNVs involving RBFOX1 gene on chromosome 16

From: Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

Case Start* (bp) Stop*(bp) Size (bp) Del/Dup Affected exon(s) Inheritance and comments
1 6,296,453 6,317,524 21,071 Del 2 NT, a diagnosis of Mowat-Wilson syndrome
2 6,398,588 6,417,167 18,579 Del - NT
3 6,500,668 6,737,047 236,379 Del 3 Inconclusive
4 6,567,938 6,609,613 41,675 Del - NT
5 6,597,626 6,759,803 162,177 Del 3 Maternally inherited
6 6,752,063 7,577,445 825,382 Del 4 to 9 An additional 178 kb deletion of 1p31.3 (61,318,736-61,496,706); De novo for both deletions
7 6,781,978 6,948,525 166,547 Del - NT
8 6,829,209 6,904,158 74,949 Del - NT
9 6,860,713 7,018,893 158,180 Del - NT, a diagnosis of mild hemophilia A
10 6,866,819 7,011,349 144,530 Del - NT
11 6,883,111 6,912,449 29,338 Del - NT
12 7,079,544 7,133,209 53,665 Del - NT
13 7,132,809 7,170,657 37,848 Del - NT
14 6,689,120 7,062,757 373,637 Dup 4, 5 NT
  1. Notes: *The genomic coordinates of these CNVs were based on the human genome annotation of hg18 build; Del deletion, Dup duplication, NT not tested.