Table 3.
(A) New atypical microdeletion; (B) deletions and (C) duplication of one or more exons
| Patient | S/F | Deleted | Type of deletions | Array‐CGH hg18 assembly deletion 17q11.2 |
|---|---|---|---|---|
| (A) New atypical microdeletion | ||||
| NF1_31a | F | NUFIP2 ‐ ex1 NF1 | Atypic (1.8 Mb) | 24,634,917–26,461,947 |
| NF1_226a | S | CRLF3‐NF1‐RAB11FIP4 | Atypic (0.871 Mb) | 26,173,551–27,044,653 |
| NF1_505 | S | BLMH‐NF1 | Atypic (1.1 Mb) | |
| NF1_582 | F | RNF135‐NF1 | Atypic (0.4 Mb) | |
| NF1_724 | S | Exon6 NF1‐ MYOD | Atypic (>1.6 Mb) | |
| Patient | S/F | Deleted | Type of deletions | Array‐CGH hg18 assembly deletion 17q11.2 |
|---|---|---|---|---|
| (B) Deletions of one or more exons | ||||
| NF1_(95a‐96) | F | 34 | Single exon (1.215 kb) | 26,612,509–26,613,724 |
| NF1_(373‐374) | F | |||
| NF1_267a | S | 14–31 | Multiple exons (35 kb) | 29,545,984–29,580,921 |
| NF1_(451‐494) | F | 13–19 | Multiple exons (13 kb) | |
| NF1_377 | S | 30/31 | Multiple exons (4 kb) | |
| NF1_468 | F | 1 + promoter | Single exon (4 kb) | |
| NF1_521 | NA | 6–10 | Multiple exons (19.6 kb) | |
| NF1_650 | S | 10–34 | Multiple exons (60.6 kb) | |
| NF1_670 | S | 10‐57 | Multiple exons (173 kb) | |
| NF1_785 | S | 30‐35 | Multiple exon (16.3 kb) | |
| Patient | S/F | Duplication | Type of duplication | Array‐CGH‐hg18 assembly duplication 17q11.2 |
|---|---|---|---|---|
| (C) Duplication of one or more exons | ||||
| NF1_295a | S | 13/31 | Multiple exon (45 kb) | 29,536,361–29,581,490 |
| NF1_602 | F | 28/29 | Multiple exon (0,3 kb) | |
These deletions were sequenced and none of the corresponding exons were found to carry a point mutation within the corresponding MLPA probe. NA, not available; F, familiar; S, sporadic.
a
Deletions confirmed by CGH‐array.