Table 2 Characteristics of Patients With Variants in RASA1 and EPHB4
From: Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Proband ID | Ethnicity | Sex | Type | Proband Phenotype | Carrier Parent Phenotype | Class | Gene | Position (GRCH37) | AA Change |
|---|---|---|---|---|---|---|---|---|---|
KVOGM_71-1 | African | F | DNV | Cutaneous vascular lesion | NA | stopgain | RASA1 | 5:86648999:C:T | p.R427X |
KVOGM122-1 | European | M | DNV | Cutaneous vascular lesion | NA | frameshift | RASA1 | 5:86659286:TTCTG:T | p.V527Mfs*16 |
KVOGM95-1 | European | F | Transmitted from mother | Deaf left ear | Cutaneous vascular lesions (mother) | frameshift | RASA1 | 5:86672737:T:TC | p.H743Tfs*24 |
KVOGM42-1* | Mexican | F | Transmitted from mother | Cutaneous vascular lesion, cerebral palsy, neurodevelopmental delay, seizures | Cutaneous vascular lesions (mother) | stopgain | RASA1 | 5:86672323:C:T | p.R709X |
KVOGM48-1 | European | F | Transmitted from mother | Cutaneous vascular lesion, neurodevelopmental delay | Cutaneous vascular lesions (mother) | stopgain | RASA1 | 5:86676336:T:TA | p.Y695* |
KVOGM18-1* | European | M | Transmitted from father | Cerebral palsy, hemiplegia, macular scarring, visual neglect, neurodevelopmental delay, seizures | NA | D-mis | EPHB4 | 7:100403202:A:G | p.F867L |
KVOGM33-1* | Mexican | F | Transmitted from mother | Neurodevelopmental delay | Cutaneous vascular lesions (mother) | D-mis | EPHB4 | 7:100410537:C:A | p.K650N |
KVOGM25-1* | European | M | Transmitted from father | Sternum excavatum, neurodevelopmental delay | NA | D-mis | EPHB4 | 7:100414876:G:C | p.A509G |
VOGM115-1* | European | M | Transmitted from father | Neurodevelopmental delay, seizures | Cutaneous vascular lesions (father) | frameshift | EPHB4 | 7:100417179:CCT:C | p.E432Gfs*7 |
KVOGM_72-1 | EastAsian | M | Transmitted from father | NA | NA | D-mis | EPHB4 | 7:100403289:G:A | p.R838W |
