Article
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
Human mutation - 1 Jan 2013
Lynch Danielle C, Dyment David A, Huang Lijia, Nikkel Sarah M, Lacombe Didier, Campeau Philippe M, Lee Brendan, Bacino Carlos A, Michaud Jacques L, Bernier Francois P, Parboosingh Jillian S, Innes A Micheil
Abstract excerpt
Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A were reported in patients with acrodysostosis and hormone resistance. Subsequently, mutations in a phosphodiesterase gene (PDE4D) were identified in seven sporadic cases. We sequenced PDE4D in seven acrodysostosis patients from five families. Missense...
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