RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

Clinical Genetics

Volumn 85, Issue 1, 2014, Pages 96-99

  Maystadt, I ^a   Destree, A ^a   Benoit, V ^a   Aeby, A ^b   Lederer, D ^a   Moortgat, S ^a   Jurkiewicz, D ^c   Krajewska Walasek, M ^c   Hanauer, A ^d   Thomas, G M ^e  

^a INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

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

^e TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOMAL S6 PROTEIN KINASE A3; S6 KINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGGRESSIVENESS; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; DEVELOPMENTAL DISORDER; DYSLEXIA; FEMALE; GENE MUTATION; HUMAN; HYPERTELORISM; HYPODONTIA; INFANT; KYPHOSCOLIOSIS; LEARNING DISORDER; LETTER; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NOONAN SYNDROME; OBESITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SPEECH DELAY; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; COFFIN-LOWRY SYNDROME; FACIES; FEMALE; HUMANS; MALE; MUTATION; NONDISJUNCTION, GENETIC; PEDIGREE; PHENOTYPE; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 84890243774     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12122     Document Type: Letter

References (8)

1. Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet 2002: 39 (10): 705-713.
2. Delaunoy J, Abidi F, Zeniou M et al. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Hum Mutat 2001: 17 (2): 103-116.
3. Jurkiewicz D, Jezela-Stanek A, Ciara E et al. Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Eur J Med Genet 2010: 53 (5): 268-273.
4. Manouvrier-Hanu S, Amiel J, Jacquot S et al. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. J Med Genet 1999: 36 (10): 775-778.
5. Merienne K, Jacquot S, Trivier E et al. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. J Med Genet 1998: 35 (11): 890-894.
6. Field M, Tarpey P, Boyle J et al. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet 2006: 70 (6): 509-515.
7. Hauge C, Frödin M. RSK and MSK in MAP kinase signalling. J Cell Sci 2006: 119 (Pt 15): 3021-3023.
8. Merienne K, Jacquot S, Pannetier S et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 1999: 22 (1): 13-14.