Gene: [05q3/DTD] diastrophic dysplasia sulfate transporter; diastrophic dysplasia; atelosteogenesis type IB (MIM:600972); atelosteogenesis type II (neonatal osseous dysplasia I; MIM:256050); achondrogenesis, type IB (ACG-IB; ACG1B); [DTDST DD ]
COM | The DTD gene was mapped on the basis of linkage analysis of diastrophic dysplasia and Chr 5 markers (Hastbacka-1991)." |
CAG | [1]
Hastbacka-1995,1996 showed that atelosteogeneis type II is caused by
mutations in the diastrophic dysplasia sulfate transporter gene. [2] Superti-Furga-1995,1996a,1996b showed that diastrophic dysplasia and atelosteogenesis type IB are allelic disorders." |
HIS | Originally, according to data Bass-1982 and Holmgren-1984 about diastrophic dysplasia manifestation in chr 18 trisomy mosaicism, the DTD locus had been considered to be provisionally mapped to Chr 18. Later the linkage between DTD and chr 5 markers was shown (Hastbacka-1991)." |
REL | GEM:05q35/CHR |
REF | LIN,COM "Bass &: Clin
Genet, 22, 327-330, 1982 MGC,PND "Butler &: Am J Med Genet, 28, 685-689, 1987 LIN "Elima K &: J Med Genet, 26, 314-319, 1989 MGC,PND "Gollop, Eigier: Am J Med Genet, 27, 321-324, 1987 HIS,PHE "Gustavson &: Clin Genet, 28, 321-324, 1985 FAG,PAT "Hall BD: Am J Med Genet, 63, 28-33, 1996 MUT "Hastbacka J &: AJHG, 58, 255-262, 1996 MUT "Hastbacka J &: AJHG, 57, A48-48, 1995 PND,POL "Hastbacka J &: J Med Genet, 30, 265-268, 1993 LOC,LIN "Hastbacka J &: PNAS, 87, N20, 8056-8059, 1990 MGC,PND "Hobbins &: Am J Obstet Gynecol, 142, 306-312, 1982 LIN,COM "Holmgren &: Hum Hered, 34, 266-268, 1984 HIS,PHE "Horton &: J Pediatr, 93, 609-613, 1978 HIS,PHE "Lamy, Maroteaux: Presse Med, 68, 1977-1980, 1960 HIS,PHE "Langer LO: Am J Roentgenol, 93, 399-404, 1965 MGC,PND "O'Brien &: Brit Med J, 280, 1300, 1980 MUT "Rossi A &: Hum Genet, 98, 657-661, 1996 MUT "Superti-Furga A &: Nature Genet, 12, 100-102, 1996a MUT "Superti-Furga A &: Am J Med Genet, 63, 144-147, 1996b MUT "Superti-Furga A &: AJHG, 57, A48-48, 1995 HIS,PHE "Taybi H: Radiology, 80, 1-10, 1963 HIS,PHE "Walker &: Medicine, 51, 41-60, 1972 |
SWI | SWISSPROT: P50443 |
KEY | devd, bone |
CLA | coding, basic |
LOC | 05 q31-34 |
MIM | MIM: 222600 |
SYN | DTDST DD |
