Gene: [11q131/FEOM2] fibrosis of the extraocular muscles, congenital 2; [CFEOM2 ]
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COM |
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." |
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PAT |
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." |
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REF |
PAT,LIN,LOC "Engle EC &: AJHG, 61, (Suppl), A30, 1997 |
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KEY |
myo, eye |
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CLA |
unknown, basic |
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LOC |
11 q13.1 |
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MIM |
MIM: 602078 |
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SYN |
CFEOM2 |
