Mutation analysis of the RSK2 gene in Coffin-Lowry patients: Extensive allelic heterogeneity and a high rate of de novo mutations

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1631-1640

  Jacquot, Sylvie ^a   Merienne, Karine ^a   De Cesare, Dario ^a   Pannetier, Solange ^a   Mandel, Jean Louis ^a   Sassone Corsi, Paolo ^a   Hanauer, André ^a,b  

^a CNRS   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COFFIN LOWRY SYNDROME; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MALE; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0032471366     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302153     Document Type: Article

References (18)

1. Bjorbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, et al. (1995) Cloning of a human insulinstimulated protein kinase (ISPK-1) gene and analysis of coding regions and niRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes 44:90-97
2. Blenis J (1993) Signal transduction via the MAP kinases: proceed at your own RSK, Proc Natl Acad Sci USA 90:5889-5892
3. Coffin GS, Siris E, Wegienka LC (1966) Mental retardation with osteocartilaginous anomalies. Am J Dis Child 112:205-213
4. Fisher TL, Blenis J (1996) Evidence for two catalytically active kinase domains in pp90rsk. Mol Cell Biol 16:1212-1219
5. Fryns JP, Vinken L, van den Berghe H (1977) The CoffinLowry syndrome. Hum Genet 36:271-276
6. Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL (1988) Coffin-Lowry syndrome: a multicenter study. Clin Genet 34:230-245
7. Hanks SK, Hunter T (1995) The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification. FASEB J 9:576-596
8. Hartsfield JK, Hall BD, Grix AW, Kousseff BG, Salazar JF, Haufe SMW (1993) Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. Am J Med Genet 45:552-557
9. Hunter AGW, Partington MW, Evans JA (1982) The Coffin- Lowry syndrome: experience from four centres. Clin Genet 21:321-335
10. Jones SW, Erikson E, Blenis J, Mailer J, Erikson RL (1988) A Xenopus ribosomal protein 56 kinase has two apparent kinase domains that are each similar to distinct protein kinases. Proc Natl Acad Sci USA 85:3377-3381
11. Krajewska-Walasek M, Kubicka K, Ryzko J (1988) Cardiac involvement in Coffin-Lowry syndrome. Eur J Pediatr 147:448
12. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
13. Lowry B, Miller JR, Fraser FC (1971) A new dominant gene mental retardation syndrome: association with small stature, tapering fingers, characteristic facies, and possible hydro cephalus. Am J Dis Child 121:496-500
14. Merienne K, Jacquot S, Trivier E, Pannetier S, Rossi A, Schinzel A, Castellan C, et al. (1998) Rapid immunoblot and kinase assay tests for a syndromal form of X-linked mental retardation: Coffin-Lowry syndrome. J Med Genet 35:890-894
15. Temtamy SA, Miller JD, Hussels-Maumenee I (1975) The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome. J Pediatr 86:724-731
16. Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, et al. (1996) Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384:567-570
17. Young ID (1988) The Coffin-Lowry syndrome. J Med Genet 25:344-348
18. Zhao Y, Bjorbaek C, Weremowicz S, Morton CG, Moller DE (1995) RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation. Mol Cell Biol 15:4353-4363