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