Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

European Journal of Human Genetics

Volumn 7, Issue 1, 1999, Pages 20-26

  Abidi, Fatima ^a   Jacquot, Sylvie ^b   Lassiter, Christopher ^c   Trivier, Elizabeth ^b   Hanauer, André ^b   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b CNRS   (France)

^c FURMAN UNIVERSITY   (United States)

Author keywords

Coffin Lowry; Mental retardation; Mutation; Rsk 2; SSCP

Indexed keywords

AMINO ACID; ARGININE; GLUTAMINE; S6 KINASE; TRYPTOPHAN;

ARTICLE; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FACE DYSMORPHIA; FINGER MALFORMATION; FRAMESHIFT MUTATION; GENE DELETION; GENE MAPPING; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; NONSENSE MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 0032947973     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200231     Document Type: Article

References (17)

1. Temtamy SA, Miller JD, Hussels-Maumenee I: The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome. J Pediatr 1975; 86: 724-731.
2. Young ID: The Coffin-Lowry syndrome. J Med Genet 1988; 25: 344-348.
3. Hanauer A, Alembik Y, Gilgenkrantz S et al: Probable localization of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet 1988; 30: 523-530.
4. Biancalana V, Trivier E, Weber C et al: Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics 1994; 22: 617-625.
5. Bird H, Collins AL, Oley C, Lindsay S: Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet 1995; 59: 512-516.
6. Trivier E, De Cesare D, Jacquot S et al: Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996; 384: 567-570.
7. Moller DE, Xia CH, Tang W, Zhu AX, Jakubowski M: Human rsk isoforms: cloning and characterization of tissue-specific expression. Am J Physiol 1994; 266: C351-C359.
8. Bjorbaek C, Vik TA, Echwald SM et al: Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes 1995; 44: 90-97.
9. Erickson E, Maller JL: Substrate specificity of ribosomal protein S6 kinase II from Xenopus eggs. Second Messengers Phosphoproteins 1988; 12: 135-143.
10. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE: Allan-Herndron syndrome II. Linkage to DNA markers in Xq21. Am J Hum Genet 1990; 47: 454-458.
11. Gurrieri F, Prinos P, Tackels D et al: A split hand-foot (SHFM3) gene is located at 10q24-q25. Am J Med Genet 1996; 62: 427-436.
12. Haliassos A, Chomel JC, Tesson L et al: Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acid Res 1989; 17: 8093-8099.
13. Jones SW, Erickson E, Blenis J, Maller JL, Erickson RL: A Xenopus ribosomal protein S6 kinase has two apparent kinase domains that are each similar to distinct protein kinases. Proc Natl Acad Sci USA 1988; 85: 3377-3381.
14. Alcorta DA, Crews CM, Sweet LJ, Bankston L, Jones SW, Erickson RL: Sequence and expression of chicken and mouse rsk: homologs of Xenopus laevis ribosomal S6 kinase. Mol Cell Biol 1989; 9: 3850-3859.
15. rsk. Mol Cell Biol 1996; 16: 1212-1219.
16. Zhao Y, Bjorbaek C, Moller DE: Regulation and interaction of pp90(rsk) isoforms with mitogen activated protein kinases. J Biol Chem 1996; 271: 29773-29779.
17. Roest PAM, Roberts RG, Sugino S, van Ommen G-JB, den Dunnen JT: Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 1993; 2: 1719-1721.