Coffin-Lowry syndrome

Mailer Null Rsk knockout mice are alive. The Coffin—Lowry syndrome is only found in n. 2-deficient patients. 

Thomson S, Clayton AL, Hazzalin CA, Rose S, Barratt MJ, Mahadevan LC (1999) The nucleosomal response associated with immediate-early gene induction is mediated via alternative MAP kinase cascades MSKl as a potential histone H3/HMG-14 kinase. Embo J 18(17) 4779-4793 Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A (1996) Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384(6609) 567-570... 

Yamamoto Y, Verma UN, Prajapati S, Kwak YT, Gaynor RB (2003) Histone H3 phosphorylation by IKK-alpha is critical for cytokine-induced gene expression. Nature 423(6940) 655-659 Young ID (1988) The Coffin-Lowry syndrome. J Med Genet 25(5) 344-348... 

Fig. 19.3. Diagnostic flow-chart for patients with coarse Hurler-like face. Coffin-Lowry syndrome (MIM 303300) Coffin-Siris syndrome (MIM 135900) frontometaphyseal dysplasia (MIM 305620) Sotos syndrome (MIM 117550) Williams syndrome (MIM 194050) multiple neuroma syndrome (MIM 171400) pachydermoperiostosis (MIM 167100) acromegaloid facial appearance syndrome (MIM 102150) Costello syndrome (MIM 218040) Patterson David syndrome (MIM 169170) Schinzel-Giedeon syndrome (MIM 269150) Fountain syndrome (MIM 229120) Pallister-Killian syndrome (MIM 601803) Simpson-Golabi-Behmel syndrome (MIM 312870) congenital hypothyroidism. Sialic acid storage disease, a lysosomal transport defect (Chap. 20) should also be considered in the differential diagnosis...

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