Tissue | RASA1 variant | Allele frequency (read count) with AmpliSeq panel | Allele frequency (read count) with Sophia Genetics panel | Sanger sequencing | CMs | Fast-flow vascular malformations | |
Patient 1 | Blood | c.1879A>T; p.(Lys627*) | 35.7% (10/28) | 25.3% (164/649) | + | 3 CMs | Parieto-occipital AVF/spinal AVM from T1 to T8 |
Patient 2 | Blood | c.2035C>T; p.(Arg679*) | 2.7% (3/111) | 3.1% (63/2011) | NP | 4 CMs, Bier spots on hands and telangiectatic lesions on upper thorax, lower lip and tongue | Facial AVM |
AVM | c.(2035C>T(;)c.1507C>T); p.(Arg679*(;) Gln503*) | 13.6% (465/3407)+8% (171/2126) | NP | NP | |||
Patient 3 | Blood | c.1192C>T; p.(Lys398*) | NP | 8.5% (101/1189) | + | More than 20 CMs | Soft tissue and fatty hypertrophy with multiple AV microfistulas in the right foot |
Patient 4 | Blood | c.2707C>T; p.(Arg903*) | NP | 6.1% (59/964) | NP | More than 10 CMs | – |
Saliva | NP | 4.6% (36/783) | NP | ||||
CM | 6.9% (21/305) | NP | NP |
The symbol – denotes absent and + denotes mutation seen by Sanger sequencing.
AV, arteriovenous; AVF, arteriovenous fistula; AVM, arteriovenous malformation;CM, capillary malformation; NP, not performed.