A Novel Locus for Restless Legs Syndrome on Chromosome 13q
Küçük Resim Yok
Tarih
2012
Yazarlar
Balaban, Hatice
Bayrakli, Fatih
Kartal, Ugur
Pinarbasi, Ergun
Topaktas, Suat
Kars, Hamit Zafer
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
KARGER
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Background: Restless legs syndrome (RLS) is a sensorimotor disorder in which affected individuals suffer from uncomfortable sensations and an urge to move their lower limbs; it occurs mainly in resting situations during the evening or at night. Multiple chromosomal loci have been mapped for RLS through family-based linkage analysis, and genome-wide association studies but causative mutations have not been identified yet. Method: We identified an RLS family from the eastern part of central Turkey which has 10 patients suffering from this syndrome. Whole genome linkage analysis was performed in family members who consented for study (9 affected and 2 unaffected). Results: A theoretical maximum logarithm of the odds score of 3.29 was identified at chromosome 13q32.3-33.2. This result shows strong genetic linkage to this locus. Conclusions: We demonstrated a genetic linkage at chromosome 13 in a RLS family. Further investigation in this linkage area may reveal a causative gene leading to RLS phenotype and may illuminate the pathogenesis of this disease. This study supports the genetic heterogeneity in the pathogenesis of this syndrome. Copyright (C) 2012 S. Karger AG, Basel
Açıklama
Anahtar Kelimeler
Restless legs syndrome, Whole genome linkage analysis, Autosomal dominant trait, Logarithm of the odds score, Chromosomal locus
Kaynak
EUROPEAN NEUROLOGY
WoS Q Değeri
Q3
Scopus Q Değeri
Q3
Cilt
68
Sayı
2
