Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
2012; Elsevier BV; Volume: 91; Issue: 5 Linguagem: Inglês
10.1016/j.ajhg.2012.10.001
ISSN1537-6605
AutoresGeneviève Bernard, Éliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni A. Carosso, I Clément, Odile Boespflug‐Tanguy, Diana Rodriguez, Valérie Delague, Joelle Abou Ghoch, Nadine Jalkh, Imen Dorboz, Sébastien Fribourg, Martin Teichmann, André Mégarbané, Raphael Schiffmann, Adeline Vanderver, Bernard Brais,
Tópico(s)RNA modifications and cancer
Resumo(The American Journal of Human Genetics, 89, 415–423; September, 2011) Unfortunately, this paper misstated the genomic positions of two variants. c.2003+18G>A should have been c.1909+18G>A, and c.2711-1G>A should have been c.2617-1G>A. The authors regret the error. Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating LeukodystrophyBernard et al.The American Journal of Human GeneticsAugust 18, 2011In BriefLeukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterized by abnormal white matter visible by brain imaging. It is estimated that at least 30% to 40% of individuals remain without a precise diagnosis despite extensive investigations. We mapped tremor-ataxia with central hypomyelination (TACH) to 10q22.3-23.1 in French-Canadian families and sequenced candidate genes within this interval. Two missense and one insertion mutations in five individuals with TACH were uncovered in POLR3A, which codes for the largest subunit of RNA polymerase III (Pol III). Full-Text PDF Open Archive
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