Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

Abstract

We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients… (More)
DOI: 10.1002/ajmg.a.34325

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@article{Vissers2011WholeexomeSD, title={Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).}, author={Lisenka E L M Vissers and Virginia Fano and Diego Martinelli and Belinda A Campos-Xavier and Domenico Barbuti and Tae-Joon Cho and Ahmet Murat Dursun and Ok Hwa Kim and Sun Hee Lee and Giuseppina Timpani and Gen Nishimura and Sheila L. Unger and J{\"{o}rn Sass and Joris A. Veltman and Han G. Brunner and Luisa Bonafė and Carlo Dionisi-Vici and Andrea Superti-Furga}, journal={American journal of medical genetics. Part A}, year={2011}, volume={155A 11}, pages={2609-16} }