Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

@article{Smith2014ExomewideRV,
  title={Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS},
  author={Bradley N Smith and Nicola Ticozzi and Claudia Fallini and Athina Soragia Gkazi and Simon Topp and Kevin Patrick Kenna and Emma L Scotter and Jason E. Kost and Pamela J. Keagle and Jack W Miller and Daniela Calini and Caroline Vance and Eric W. Danielson and Claire Troakes and Cinzia Tiloca and Safa Al-Sarraj and Elizabeth Anne Lewis and Andrew W. King and Claudia Colombrita and Viviana Pensato and Barbara Castellotti and Jacqueline S de Belleroche and Frank Baas and Anneloor Lma ten Asbroek and Peter C. Sapp and Diane M. McKenna-Yasek and Russell L McLaughlin and Meraida A. Polak and Seneshaw A. Asress and Jes{\'u}s Esteban-P{\'e}rez and Jos{\'e} Lu{\'i}s Mu{\~n}oz-Blanco and Michael R. Simpson and Wouter van Rheenen and Frank P. Diekstra and Giuseppe Lauria and Stefano Duga and Stefania Corti and Cristina Cereda and Lucia Corrado and Gianni Sorar{\`u} and Karen E. Morrison and Kelly L Williams and Garth A. Nicholson and Ian P Blair and Patrick A. Dion and Claire S Leblond and Guy A Rouleau and Orla Hardiman and Jan Herman Veldink and Leonard H. van den Berg and Ammar Al-Chalabi and Hardev Singh Pall and Pamela J Shaw and Martin R. Turner and Kevin J. Talbot and Franco Taroni and Alberto Garc{\'i}a-Redondo and Zheyang Wu and Jonathan D. Glass and Cinzia Gellera and Antonia Ratti and R. H. Brown and Vincenzo Silani and Christopher E Shaw and John E Landers},
  journal={Neuron},
  year={2014},
  volume={84},
  pages={324-331}
}
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS). The results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein… CONTINUE READING
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