Table 1:
Molecular findings identified in a cohort of 7 unrelated individuals with ZTTK syndrome
| Individuals |
|||||||
|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | |
| cDNA (NM_138927.2) | c.5753_5756del | c.2357_2358dup | c.457del | c.1881_1882del | c.5753_5756del | c.3852_3856del | WGD |
| Protein (NP_620305.2) | p.Val1918 Glufs*87 | p.Ala787* | p.Asp153Ilefs*4 | p.Val629Alafs*56 | p.Val1918Glufs*87 | p.Met1284Ilefs*2 | WGD |
| Inheritance | De novo | De novo | De novo | De novo | Unknown | Unknown | De novo |
| Sequencing method | WES | WES | WES | WGS | WGS | WES | CMA |
| Capture platform | SureSelect V5 (Agilent) | SeqCap EZ V2 (Roche) | SureSelect V5+UTRs (Agilent) | No capture | No capture | SureSelect QXT CRE V2 (Agilent) | SurePrint G3 CGH ISCA V2 (Agilent) |
Note:—WGD indicates whole-genome deletion; CMA, chromosomal microarray.