AIM: Benign positional paroxysmal vertigo (BPPV) is characterized by short-lived episodes of vertigo in association with rapid changes in head position, most commonly extension and rotation of the neck while supine. It has been clinically observed that there is a subgroup of patients in whom the BPPV disease is inherited in an autosomal dominant fashion. However, little is known about the familial/genetic factors that may contribute to a predisposition to develop the disease. MATERIALS AND METHODS: We ascertained and performed a genome-wide scan on a three-generation family in which multiple family members developed BPPV. We performed whole genome mapping with 400 microsatellite repeat markers and analyzed this trait using both autosomal dominant and recessive models of inheritance. RESULTS: Two point linkage analysis showed LOD scores of one or greater than one on chromosomes 7, 15, 16 and 20. Independent of the model of inheritance, the highest two-point LOD scores localized to same marker on chromosome 15. Multipoint linkage analysis showed the highest LOD score of 2.84 to markers on chromosome 15 with the autosomal dominant model. Haplotype reconstruction indicates that the BPPV gene in this family maps to a critical chromosomal 15 interval between markers GATA151F03N and GATA85D02. CONCLUSIONS: Discovery of a BPPV gene (or genes) will facilitate a better understanding of not only BPPV, but also the vestibular system. In addition, with improved understanding of the pathophysiology the potential development of alternative therapies for BPPV may be possible.
AIM: Benign positional paroxysmal vertigo (BPPV) is characterized by short-lived episodes of vertigo in association with rapid changes in head position, most commonly extension and rotation of the neck while supine. It has been clinically observed that there is a subgroup of patients in whom the BPPV disease is inherited in an autosomal dominant fashion. However, little is known about the familial/genetic factors that may contribute to a predisposition to develop the disease. MATERIALS AND METHODS: We ascertained and performed a genome-wide scan on a three-generation family in which multiple family members developed BPPV. We performed whole genome mapping with 400 microsatellite repeat markers and analyzed this trait using both autosomal dominant and recessive models of inheritance. RESULTS: Two point linkage analysis showed LOD scores of one or greater than one on chromosomes 7, 15, 16 and 20. Independent of the model of inheritance, the highest two-point LOD scores localized to same marker on chromosome 15. Multipoint linkage analysis showed the highest LOD score of 2.84 to markers on chromosome 15 with the autosomal dominant model. Haplotype reconstruction indicates that the BPPV gene in this family maps to a critical chromosomal 15 interval between markers GATA151F03N and GATA85D02. CONCLUSIONS: Discovery of a BPPV gene (or genes) will facilitate a better understanding of not only BPPV, but also the vestibular system. In addition, with improved understanding of the pathophysiology the potential development of alternative therapies for BPPV may be possible.
Authors: Sarath Vijayakumar; Teresa E Lever; Jessica Pierce; Xing Zhao; David Bergstrom; Yunxia Wang Lundberg; Timothy A Jones; Sherri M Jones Journal: Mamm Genome Date: 2015-02-03 Impact factor: 2.957
Authors: Yinfang Xu; Yan Zhang; Ivan A Lopez; Jacey Hilbers; Anthony J Griswold; Akira Ishiyama; Susan Blanton; Xue Zhong Liu; Yunxia Wang Lundberg Journal: PLoS One Date: 2021-05-06 Impact factor: 3.240