Table 2.
SMRT sequencing of sperm samples (replicates) to investigate frequencies of gonadal mosaicism in Treacher Collins syndrome family and Noonan syndrome family revealed presence of the c.923A>C variant. The c.3156C>T variant (TCOF1) was below detection rate with one single read carrying the variant and was therefore designated a negative detection rate. The c.923A>C variant (PTPN11) presented a frequency of 36.6–37.1% and was considered positive
| Mutation | Wild‐type reads | Variant readsa | Nb of reads | Frequency | Detection |
|---|---|---|---|---|---|
| TCOF1 | 1453 | 1 | 1454 | 0.001 | Negative |
| TCOF1 | 3101 | 1 | 3102 | 0 | Negative |
| PTPN11 | 976 | 576 | 1552 | 0.371 | Positive |
| PTPN11 | 2074 | 1201 | 3275 | 0.366 | Positive |
a
For TCOF1 = c.3156C>T.
For PTPN11 = c.923A>C.