Article
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
American journal of human genetics - 7 Aug 2014
Boone Philip M, Yuan Bo, Campbell Ian M, Scull Jennifer C, Withers Marjorie A, Baggett Brett C, Beck Christine R, Shaw Christine J, Stankiewicz Pawel, Moretti Paolo, Goodwin Wendy E, Hein Nichole, Fink John K, Seong Moon-Woo, Seo Soo Hyun, Park Sung Sup, Karbassi Izabela D, Batish Sat Dev, Ordóñez-Ugalde Andrés, Quintáns Beatriz, Sobrido María-Jesús, Stemmler Susanne, Lupski James R
Abstract excerpt
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins and molecular consequences remain obscure. We mapped breakpoint junctions of 54 SPAST CNVs at nucleotide resolution. Diverse...
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