Table 1 Details of all four families with parental mosaicism (pathogenic/likely pathogenic/variant of uncertain significance) in this study
From: Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Family | Gene | Origin | Sample Type | Variant detected by trio ES with peripheral blood | Variant detected by Sanger | Variant detected by BDA/BDA-qPCR | Variant detected by dPCR/ddPCR | Type of Mosaicism | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Reference count | Variant count | Total count | VAF (%) | Enriched | VAF (%) | Total chambers/droplets | VAF (%) | ||||||
14 | CHD7 | Maternal | Blood | Unknown (ES by third party) | No | No | Not tested | Not tested | Paternal gonadal mosaicism | ||||
Buccal | Not tested | No | No | Not tested | 10,286 |  < 0.01 | |||||||
Paternal | Blood | Unknown (ES by third party) | No | No | Not tested | 14,649 |  < 0.01 | ||||||
Buccal | Not tested | No | No | Not tested | 14,446 |  < 0.01 | |||||||
Semen | Not tested | Yes | Yes | Not tested | 41,644 | 13.9 | |||||||
15 | FLNC | Maternal | Blood | 12 | 0 | 12 | 0.0 | No | No |  < 0.1 | 16,628 |  < 0.01 | Paternal gonosomal mosaicism |
Buccal | Not tested | No | No | Not tested | 17,538 |  < 0.01 | |||||||
Paternal | Blood | 8 | 2 | 10 | 20.0 | Yes | Yes | 12.7 | 17,905 | 22.2 | |||
Buccal | Not tested | Yes | Yes | 8.7 | 36,218 | 21.3 | |||||||
Semen | Not tested | Yes | Yes | 22.7 | 17,510 | 35.9 | |||||||
17 | #EYA1 | Maternal | Blood | 24 | 4 | 28 | 14.3 | Yes | Not tested | Not tested | 17,284 | 21.7 | Maternal gonosomal mosaicism |
Paternal | Blood | 17 | 0 | 17 | 0.0 | No | Not tested | ||||||
18 | EBF3 | Maternal | Blood | 117 | 17 | 134 | 12.7 | Yes | Not tested | Not tested | 10,203 | 18.4 | Maternal gonosomal mosaicism |
Buccal | Not tested | Yes | 12,506 | 29.6 | |||||||||
Paternal | Blood | 107 | 0 | 107 | 0.0 | No | Not tested | ||||||