Table 1 List of genes associated with different arthrogryposes [6]
From: TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis
Arthrogryposis type | Associated gene | Mode of inheritance |
|---|---|---|
Arthrogryposis multiplex congenita 1 | LGI4 | Autosomal recessive |
Arthrogryposis multiplex congenita 2 | ERGIC1 | Autosomal recessive |
Arthrogryposis multiplex congenita 3 | SYNE1 | Autosomal recessive |
Arthrogryposis multiplex congenita 4 | SCYL2 | Autosomal recessive |
Arthrogryposis multiplex congenita 5 | TOR1A | Autosomal recessive |
Distal arthrogryposis, type 1A | TPM2 | Autosomal dominant |
Distal arthrogryposis, type 1B | MYBPC1 | Autosomal dominant |
Distal arthrogryposis, type 1C | MYLPF | Autosomal dominant |
Distal arthrogryposis, type 2A (Freeman-Sheldon syndrome) | MYH3 | Autosomal dominant |
Distal arthrogryposis, type 2B1 | TNNI2 | Autosomal dominant |
Distal arthrogryposis, type 2B2 | TNNT3 | Autosomal dominant |
Distal arthrogryposis, type 2B3 (Sheldon-Hall syndrome) | MYH3 | Autosomal dominant |
Distal arthrogryposis, type 2B4 | TPM2 | Autosomal dominant |
Distal arthrogryposis, type 3 | PIEZO2 | Autosomal dominant |
Distal arthrogryposis, type 4 | Not Mapped | Autosomal dominant |
Distal arthrogryposis, type 5 | PIEZO2 | Autosomal dominant |
Distal arthrogryposis, type 5D | ECEL1 | Autosomal dominant |
Distal arthrogryposis, type 6 | Not Mapped | Autosomal dominant |
Distal arthrogryposis, type 7 (Trismus-pseudocamptodactyly syndrome) | MYH8 | Autosomal dominant |
Distal arthrogryposis, type 8 (Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A) | MYH3 | Autosomal dominant |
Distal arthrogryposis, type 9 | FBN2 | Autosomal dominant |
Distal arthrogryposis, type 10 | Cytogenetic location: 2q31.3–q32.1 Genomic coordinates (GRCh38): 2:179,700,000–188,500,000 | Autosomal dominant |