FLNa distribution and genetic diseases
| FLN subtype . | Organ . | Phenotype . | Mutation domain distribution . | References . |
|---|---|---|---|---|
| FLNA | Brain | PVNH | Stochastic | 21-23 |
| FLNA | Skeleton | MNS | Ig10 | 32 |
| FLNA | Skeleton | FMD | Ig 3, 9-10, 14-15, 22-23; CH2 domain. | 32 |
| FLNA | Skeleton | OPD | Ig 3, 10, 14, 15; CH2 domain. | 32, 36 |
| FLNA | Heart | X-linked myxoid valvular dystrophy | Ig 1, 4, 5, 6-7 | 38, 39 |
| FLNA | Intestine | CIPO | Non-stop FLNA mutation: p(*2648Serext*100) | 26, 31 |
| FLN subtype . | Organ . | Phenotype . | Mutation domain distribution . | References . |
|---|---|---|---|---|
| FLNA | Brain | PVNH | Stochastic | 21-23 |
| FLNA | Skeleton | MNS | Ig10 | 32 |
| FLNA | Skeleton | FMD | Ig 3, 9-10, 14-15, 22-23; CH2 domain. | 32 |
| FLNA | Skeleton | OPD | Ig 3, 10, 14, 15; CH2 domain. | 32, 36 |
| FLNA | Heart | X-linked myxoid valvular dystrophy | Ig 1, 4, 5, 6-7 | 38, 39 |
| FLNA | Intestine | CIPO | Non-stop FLNA mutation: p(*2648Serext*100) | 26, 31 |
CIPO, congenital intestinal pseudo-obstruction; FMD, frontometaphyseal dysplasia; MNS, Melnick-Needles syndrome; OPD, otopalatodigital syndrome.