Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

Journal of Medical Genetics

Volumn 36, Issue 10, 1999, Pages 775-778

  Manouvrier Hanu, S ^a   Amiel, J ^b   Jacquot, S ^c   Merienne, K ^c   Moerman, A ^a   Coeslier A ^a   Labarriere, F ^d   Vallee L ^a   Croquette, M F ^d   Hanauer, A ^c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d HÔPITAL SAINT ANTOINE   (France)

Author keywords

Coffin Lowry syndrome; RSK2

Indexed keywords

S6 KINASE;

ADULT; ARTICLE; AUTISM; CASE REPORT; CATALYSIS; CHILD; COFFIN LOWRY SYNDROME; CONFORMATIONAL TRANSITION; FEMALE; GAIT; GENETIC SCREENING; HUMAN; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SIBLING; SKULL DEVELOPMENT; STRUCTURE ACTIVITY RELATION; TERATOLOGY; X CHROMOSOME LINKAGE;

EID: 0032874614     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.775     Document Type: Article

References (25)

1. Coffin GS, Siris E, Wegienka LC. Mental retardation with osteocartilaginous anomalies. Am J Dis Child 1966;112:205-13.
2. Lowry RB, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am J Dis Child 1971;121:496-500.
3. Temtamy SA, Miller JD, Hussels-Maumenee I. The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome. J Pediatr 1975;86:724-31.
4. Hanauer A, Alembik Y, Gilgenkrantz S, et al. Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet 1988;30:523-30.
5. Biancalana V, Briard ML, David A, et al. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am J Hum Genet 1992;50:981-7.
6. Trivier E, De Cesare D, Jacquot S, et al. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996;384:567-70.
7. Jacquot S, Merienne K, De Cesare D, et al. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. Am J Hum Genet 1998;63:1631-40.
8. Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A. G ermline mosaicism in Coffin-Lowry syndrome. Eur J Hum Genet 1998;6:578-82.
9. Hunter AGW, Parkington MW, Evans JA. The Coffin-Lowry syndrome experience from four centres. Clin Genet 1982;21:321-35.
10. Fryns JP, Vinken L, van den Berghe H . The Coffin syndrome. Hum Genet 1977;36:271-6.
11. Wilson WG, Kelly TE . Early recognition of the Coffin-Lowry syndrome. Am J Med Genet 1981;8:215-20.
12. Haspeslagh M, Fryns JP, Beusen L, et al. The Coffin-Lowry syndrome: a study of two new index patients and their families. Eur J Pediatr 1984;143:82-6.
13. Hersh JH, Weisskopf B, DeCoster C . Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue. Am J Med Genet 1984;18:195-9.
14. Vies JSH, Haspeslagh M, Raes MMR, Fryns JP, Casaer P, Eggermont E. Early clinical signs in Coffin-Lowry syndrome. Clin Genet 1984;26:448-52.
15. Gilgenkrantz S, Mujica P, Gruet P, et al. Coffin-Lowry syndrome: a multicenter study. Clin Genet 1988;34:230-45.
16. Young ID. The Coffin-Lowry syndrome. J Med Genet 1988;25:344-8.
17. Hartsfield JK, Hall BD, Grix AW, Koussef BG, Salazar JF, Haufe SMW. Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. Am J Med Genet 1993;45:552-7.
18. Higashi K, Matsuki C. Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. J Laryngol Otol 1994;108:147-8.
19. Fryns JP. Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus: unusual early clinical signs in Coffin-Lowry syndrome. Clin Genet 1996;50:112.
20. Crow YJ, Zuberi SM, McWilliam R, et al. "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet 1998;35:94-8.
21. Fryns JP, Smeets E. "Cataplexy" in Coffin-Lowry syndrome. J Med Genet 1998;35:702.
22. Kondoh T, Matsumoto T, Ochi M, Sukegawa K, Tsuji Y. New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. J Hum Genet 1998;43:59-61.
23. Collacott RA, Warrington JS, Young ID. Coffin-Lowry syndrome and schizophrenia: a family report. J Ment Defic Res 1987;31:199-207.
24. Sivagamasundari U, Fernando H, Jardine P, Rao JM, Lunt P, Jayewardene SL. The association between Coffin-Lowry syndrome and psychosis: a family study. J Intellect Disabil Res 1994 ;38:469-73.
25. Nakamura M, Yamagata T, Momoi MY, Yamazaki T. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol 1998;19:148-50.