Skip to Main Content
Table 1.
VAFs of SMAD3 mutations
PatientMutationWhole exomeAmpliconddPCR
Aff. boneUnaff. boneAff. boneUnaff. boneAff. boneUnaff. boneSkin overlying aff. boneSkin overlying unaff. boneBlood
Melo-8 S264Y ND 0% 2.30% 0% 0.29% 0% 0% 
Melo-11 S264Y ND 0% 1.60% 0% 1.70% 0% 0.15% 0% 0% 
Melo-12a S264Y 24% 0% 13.70% 0% 1.30% 0% 0% 
Melo-17 S264F ND 0% 7.00% 0% 8.20% 0% 1.50% 0% 0% 
PatientMutationWhole exomeAmpliconddPCR
Aff. boneUnaff. boneAff. boneUnaff. boneAff. boneUnaff. boneSkin overlying aff. boneSkin overlying unaff. boneBlood
Melo-8 S264Y ND 0% 2.30% 0% 0.29% 0% 0% 
Melo-11 S264Y ND 0% 1.60% 0% 1.70% 0% 0.15% 0% 0% 
Melo-12a S264Y 24% 0% 13.70% 0% 1.30% 0% 0% 
Melo-17 S264F ND 0% 7.00% 0% 8.20% 0% 1.50% 0% 0% 

Amplicon sequencing identified two cases (Melo-11 and Melo-17). All mutations were confirmed by ddPCR and were seen in affected bone and overlying skin. Aff., affected; ND, not detectable; Unaff., unaffected.

a

Patient Melo-12 was identified by whole exome sequencing.

Close Modal

or Create an Account

Close Modal
Close Modal