Exome Sequencing Identifies PDE4D mutations in Acrodysostosis

• Authors: LEE Hane; GRAHAM J.M.; RIMOIN D.L.; LACHMAN R.S.; KREJČÍ Pavel; TOMPSON S.W.; NELSON S.F.; KRAKOW D.; COHN D.H.
• Year of publication: 2012
• Type: Article in Periodical
• Magazine / Source: The American Journal of Human Genetics
• MU Faculty or unit: Faculty of Science
• Doi: http://dx.doi.org/10.1016/j.ajhg.2012.03.004
• Field: Physiology
• Keywords: exome; PDE4D; Acrodysostosis
• Description: Acrodysostosis is a dominantly inherited disorder. To identify the molecular basis od acrodysostosis we performed exome sequencing on five gnetically independent cases. Three different missense mutations in PDE4D, which endoced cyclic AMP specific phospodiesterases 4D were found to be heterozygous in three of cases.

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