Gene: [11q131/FEOM2] fibrosis of the extraocular muscles, congenital 2; [CFEOM2 ]


By genetic linkage analysis of the 3 Saudi Arabian families containing 18 affected individuals, Engle-1997 revealed linkage to markers near the centromere of 11q. Lod score analysis revealed a maximum combined lod score of 12.2 at D11S4136, with a critical region of 15 cM flanked by D11S1765 and D11S4207. Assuming allelic association secondary to founder effect, the critical region could be reduced to a 0.3-cM region within 11q13.1."


Engle et al. hypothesized that FEOM2 results from a related developmental defect affecting both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motor neurons and extraocular muscles. There is a considerable degree of homology (or paralogy) between chromosome 11 and chromosome 12; it may be that the existence of these clinically similar disorders, mapping to Chr 12 (see GEM:12^/FEOM1) and Chr 11, respectively, have their basis in mutation in paralogous genes originating through an ancient tetraploidization of the genome."


PAT,LIN,LOC "Engle EC &: AJHG, 61, (Suppl), A30, 1997


myo, eye


unknown, basic


11 q13.1


MIM: 602078