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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Human mutation - 1 Jul 2016

Günther Sven, Elert-Dobkowska Ewelina, Soehn Anne S, Hinreiner Sophie, Yoon Grace, Heller Raoul, Hellenbroich Yorck, Hübner Christian A, Ray Peter N, Hehr Ute, Bauer Peter, Sulek Anna, Beetz Christian

Abstract excerpt

Biallelic loss-of-function mutations in SPG11 cause a wide spectrum of recessively inherited, neurodegenerative disorders including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. By comprehensive screening of three large cohorts of HSP index patients, we identified 83 alleles with "small" mutations and 13 alleles that carry large genomic rearrangements....

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PMID: 27071356
DOI: 10.1002/humu.23000

Genes

SPG11

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