Gene: [04q/ASMD] anterior segment mesenchymal dysgenesis; [ASOD ]
|
COM |
This marker was mapped on the basis of the linkage with MNS blood group (see GEM:04q/GYPA; Ferrell-1982). At least one form of ASMD results from mutation in the PITX3 gene (GEM:10q25/PITX3). One could not exclude the identity of ASMD marker to Rieger syndrome (see GEM:04q25/PITX2). Probably these are different alleles of the same gene. It is also suggested by the fact that interstitial deletion of Chr 4q has been found in association with Rieger syndrome (Ligutic-1981)." |
|
REF |
LOC,LIN "Ferrell RE &: AJHG, 34, N2, 245-249, 1982 PHE,FOG "Hittner HM &: Am J Ophthal, 93, N1, 57-70, 1982 ABR,LOC "Ligutic I &: Clin Genet, 20, N5, 323-327, 1981 PHE,FOG "Waring &: Surv Ophthal, 20, N1, 3-27, 1975 |
|
KEY |
devd, eye |
|
CLA |
unknown, basic |
|
LOC |
04 q28-31 |
|
MIM |
MIM: 107250 |
|
SYN |
ASOD |
