Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

@inproceedings{Takeichi2017BiallelicMI,
  title={Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia},
  author={Takuya Takeichi and Antonio Torrelo and John Y. K. Lee and Yusuke Ohno and Mar{\'i}a Luisa Lozano and Akio Kihara and Lu Liu and Yuka Yasuda and Junko Ishikawa and Takatoshi Murase and Ana Bel{\'e}n Rodrigo and Pablo Fern{\'a}ndez-Crehuet and Yoichiro Toi and Jemima E Mellerio and Jos{\'e} Rivera and V. M Espinoza-san Vicente and David P Kelsell and Yutaka Nishimura and Yusuke Okuno and Daiei Kojima and Yasushi Ogawa and Kazumitsu Sugiura and Michael J. A. Simpson and W H Irwin McLean and Masashi Akiyama and John A McGrath},
  booktitle={The Journal of investigative dermatology},
  year={2017}
}
Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms… CONTINUE READING
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