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.