Table 1 Table lists all the cases with intragenic deletions discussed in this manuscript
From: Detection limit of intragenic deletions with targeted array comparative genomic hybridization
Case | Gene | Disease: Inheritance | Mutation detected with sequencing | Mutation detected with aCGH | Deletion size |
|---|---|---|---|---|---|
1 | BCKDHB | Maple syrup urine disease: AR | c.596_597delGT | Exon 9 deletion | ~58Â kb |
2 | FH | Hereditary leiomyomatosis and renal cell cancer: AD |  | Exons 2–9 deletion | ~19 kb |
3 | DBT | Maple syrup urine disease: AR | c.871C > T (p.R291X) | Exon 5 deletion | ~3.7 kb |
4 | HPRT1 | Lesch-Nyhan syndrome: XL | Â | Exon 5 deletion | 2,319Â bp |
5 | STK11 | Peutz-Jeghers syndrome: AD | Â | Exon 8 deletion | 1,325Â bp |
6 | STK11 | Peutz-Jeghers syndrome: AD | Â | Exon 3 deletion | 971Â bp |
7 | PAH | Phenylketonuria: AR | c.838G > A (p.E280K) | Partial exon 6 deletion | 801 bp |
8 | EMD | Emery-Dreifuss muscular dystrophy: XL | Â | Exon 2 deletion | 267Â bp |
9 | DBT | Maple syrup urine disease: AR | Â | Partial exon 11 deletion | > 3.5Â kb |
| Â | Â | Â | Â | c.344-4del12 | 12Â bp |
10 | POMT1 | Walker-Warburg syndrome AR | c.2167dupG | No deletion: c.160_161ins349 | False positive: Alu insertion |
11 | SLC9A6 | X-linked intellectual disability: XL | Â | No deletion | False positive: hemizygous missense |
12 | GALT | Galactosemia: AR | c.855G > T (p.K285N) mutation & c.844C > G (p.L282V) variant | No deletion | False positive: compound heterozygous missense |