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. 2011 Aug 17;6(8):e23149. doi: 10.1371/journal.pone.0023149

Table 2. Orphan FEB and GEFS+ loci.

Phenotype OMIM ID Locus Coordinates Candidates Ref.
total HBA GEO
FEB1 %121210 8q13-q21 chr8:66,932,638–72,988,347 31 19 28 [29]
FEB2 %602477 19p13.3 chr19:3,075,844–7,583,551 112 76 105 [14]
FEB4 #604352 5q14-q15 chr5:89,166,516–110,036,710 50 39 49 [40]
FEB4 #604352 5q14.3-q23.1 chr5:88,728,695–122,125,234 93 70 88 [28]
(Deprez et al.)
FEB5 %609255 6q22-q24 chr6:129,947,710–133,546,636 29 12 27 [15]
FEB6 %609253 18p11.2 chr18:10,133,108–12,597,248 12 11 12 [52]
FEB7 %611515 21q22 chr21:32,533,246–39,359,893 59 43 54 [58]
FEB9 %611634 3p24.2-p23 chr3:24,924,673–33,687,557 32 26 29 [53]
FEB10 %612637 3q26.2-q26.33 chr3:170,902,825–181,419,957 28 24 28 [63]
GEFS+4 %609800 2p24 chr2:17,491,922–20,329,508 13 8 11 [67]
GEFS+6 %612279 8p23-p21 chr8:6,940,747–15,649,945 56 20 36 [72]
GEFS+6 %612279 8p23.1-p21.3 chr8:6,940,747–20,367,401 79 35 59 [72]
(family 15173)*
GEFS+N 6q16.3-q22.31 chr6:101,352,134–119,553,944 89 60 85 [73]

Mapped FEB and GEFS+ loci for which the susceptibility or disease-causing gene has not yet been identified. Coordinates correspond to the regions flanked by genetic markers identified in the respective studies. The number of candidate genes in the mapped regions is indicated as a total number and the subset of genes for which HBA and GEO expression profiles are available, respectively (see Table S4 for the complete lists of candidates). Note: “GEFS+N” is not an official symbol (N = novel).

The implication of MASS1 in FEB4 [25] is controverse; Deprez et al [28] describe a case with an overlapping linkage interval () without evidence for MASS1 mutations (see text).

*Baulac et al [72] describe also a family with a larger linkage interval; since it is not clear whether the genetic cause is the same, we consider this interval as a distinct orphan locus.