Ontology highlight
ABSTRACT:
SUBMITTER: Einarsdottir E
PROVIDER: S-EPMC5730153 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Einarsdottir Elisabet E Grauers Anna A Wang Jingwen J Jiao Hong H Escher Stefan A SA Danielsson Aina A Simony Ane A Andersen Mikkel M Andersen Mikkel M Christensen Steen Bach SB Åkesson Kristina K Kou Ikuyo I Khanshour Anas M AM Ohlin Acke A Wise Carol C Ikegawa Shiro S Kere Juha J Gerdhem Paul P
PloS one 20171214 12
A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c.G6859A change in exon 21 (NM_001408), leading to a pred ...[more]