Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A have been identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V
タイトル
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
