Cytogenetic location: 14q13-q21 Genomic coordinates (GRCh38): 14:32,900,001-50,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q13-q21 | {Restless legs syndrome 2} | 608831 | 2 |
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300).
Bonati et al. (2003) reported an Italian family in which at least 15 members spanning 3 generations had restless legs syndrome inherited in an autosomal dominant pattern. The mean age at onset was 26 years, and was characterized by an irresistible desire to move the lower extremities associated with paresthesias. Episodes occurred at rest and most often at night, resulting in insomnia and chronic sleep deprivation. Several patients complained of leg cramps during the day with exercise. One woman reported exacerbation of symptoms during pregnancy. Some family members demonstrated a less severe phenotype designated 'periodic leg movements in sleep,' which the authors considered to be a precursor to the full disorder.
In a large Italian family with autosomal dominant restless legs syndrome, Bonati et al. (2003) found linkage to a 9.1-cM region between markers D14S70 and D14S1068 on chromosome 14q13-q21 (maximum 2-point lod score of 3.23 at D14S288).
Levchenko et al. (2004) found support for this locus in a French Canadian population.
Bonati, M. T., Ferini-Strambi, L., Aridon, P., Oldani, A., Zucconi, M., Casari, G. Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 126: 1485-1492, 2003. [PubMed: 12764067] [Full Text: https://doi.org/10.1093/brain/awg137]
Levchenko, A., Montplaisir, J.-Y., Dube, M.-P., Riviere, J.-B., St-Onge, J., Turecki, G., Xiong, L., Thibodeau, P., Desautels, A., Verlaan, D. J., Rouleau, G. A. The 14q restless legs syndrome locus in the French Canadian population. Ann. Neurol. 55: 887-891, 2004. [PubMed: 15174026] [Full Text: https://doi.org/10.1002/ana.20140]