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• W1900113114 abstract "Sir, We read with great interest the recent paper by Rossor et al. (2015), reporting two new patients and summarizing observations on 30 previously published patients worldwide with BICD2 -related spinal muscular atrophy. The work provides a timely overview of the main clinical characteristics observed in patients carrying the six currently known dominant BICD2 mutations. The paper also highlights the current knowledge of the structural and interaction specificities of BICD2 protein affected by the described missense mutations and supports dynein-dynactin trafficking impairment as a common pathomechanism (Oates et al. , 2013).The most common BICD2 mutation reported in four of the nine families was c.320C>T, p.Ser107Leu. The mutation in two large pedigrees originating from Australia and Austria fell on a shared eight single nucleotide polymorphism (SNP) haplotype, spanning a 0.1 Mb region and with a background frequency of 2% in the European population, suggesting a recent founder mutation between the two families. The same haplotype background was predicted in another affected family from the USA with European ancestors. A four-generation Bulgarian family with Turkish ethnic origin, originally reported by Peeters et al. (2013), was the fourth family carrying the same mutation within a 12.7 Mb region of linkage. In this family the disease arose as a consequence of a de novo mutation in the proband. In addition a three-generation Dutch family published by Neveling et al. (2013), had a similar phenotype and carried the same c.320C>T, p.Ser107Leu missense mutation within a 10 Mb region of linkage.Here, we would like to expand the clinical presentation and haplotype background of the p.Ser107Leu BICD2 mutation with five additional patients from two North UK families (Fig. 1). A 41-year-old mother presented with her three children affected by the same disorder (Family 1). She had a longstanding history of muscle …" @default.
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• W1900113114 date "2015-06-10" @default.
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• W1900113114 title "The p.Ser107Leu in<i>BICD2</i>is a mutation ‘hot spot’ causing distal spinal muscular atrophy" @default.
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• W1900113114 doi "https://doi.org/10.1093/brain/awv159" @default.
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