Alternative titles; symbols
Other entities represented in this entry:
ORPHA: 569;
Cytogenetic location: 1q31 Genomic coordinates (GRCh38): 1:185,800,001-198,700,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1q31 | {Migraine with or without aura, susceptibility to, 6} | 607516 | Autosomal dominant | 2 |
| {Migraine, familial hemiplegic, 4} | 607516 | Autosomal dominant | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of migraine with or without aura, see MGR1 (157300).
For a phenotypic description and discussion of genetic heterogeneity of familial hemiplegic migraine, see FHM1 (141500).
Migraine with or without Aura, Susceptibility to, 6
By linkage studies in Australian pedigrees, Lea et al. (2002) pursued the possibility of a gene for susceptibility to migraine with (MA) or without (MO) aura in the 1q31 region. Initial multipoint analysis provided strong evidence for linkage of 1q31 markers to typical migraine in a large multigenerational pedigree. Subsequent analysis of an independent sample of 82 affected pedigrees added support to the initial findings, with a maximum lod score of 1.24 (maximum allele sharing lod score of 3.36 at D1S2782). Using the independent sample of 82 pedigrees, they also performed a family-based association test. The results of this analysis indicated distortion of allele transmission at marker D1S249 in these pedigrees.
Familial Hemiplegic Migraine 4
Gardner et al. (1997) implicated a broad 44-cM region on 1q31 as an additional familial hemiplegic migraine susceptibility locus by family linkage studies. This region is approximately 30 cM telomeric to the region reported by Ducros et al. (1997) for FHM2 (602481). It was not clear whether there is a single locus or 2 distinct loci on the chromosome 1q region. The neuronal calcium channel alpha-1 subunit gene, CACNA1E (601013), has been mapped to the region 1q25-q31. This gene has a sequence highly similar to that of CACNA1A (601011), which is mutated in FHM1 (141500), and is therefore an excellent candidate for a cause of another form of familial hemiplegic migraine and possibly also for typical migraine.
Ducros, A., Joutel, A., Vahedi, K., Cecillon, M., Ferreira, A., Bernard, E., Verier, A., Echenne, B., Lopez de Munain, A., Bousser, M.-G., Tournier-Lasserve, E. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann. Neurol. 42: 885-890, 1997. [PubMed: 9403481] [Full Text: https://doi.org/10.1002/ana.410420610]
Gardner, K., Barmada, M. M., Ptacek, L. J., Hoffman, E. P. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 49: 1231-1238, 1997. [PubMed: 9371899] [Full Text: https://doi.org/10.1212/wnl.49.5.1231]
Lea, R. A., Shepherd, A. G., Curtain, R. P., Nyholt, D. R., Quinlan, S., Brimage, P. J., Griffiths, L. R. A typical migraine susceptibility region localizes to chromosome 1q31. Neurogenetics 4: 17-22, 2002. [PubMed: 12030327] [Full Text: https://doi.org/10.1007/s10048-001-0125-1]