PMID- 10528858
OWN - NLM
STAT- MEDLINE
DCOM- 19991119
LR  - 20190503
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 10
DP  - 1999 Oct
TI  - Unreported RSK2 missense mutation in two male sibs with an unusually mild form of
      Coffin-Lowry syndrome.
PG  - 775-8
AB  - An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been
      identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS)
      inherited from their healthy mother. They exhibit transient severe hypotonia,
      macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental
      retardation, associated in the first sib with transient autistic behaviour. Some 
      dysmorphic features of CLS (in particular forearm fullness and tapering fingers) 
      and many atypical findings (some of which were reminiscent of FG syndrome) were
      observed as well. The moderate phenotypic expression of this mutation extends the
      CLS phenotype to include less severe mental retardation and minor, hitherto
      unreported signs. The missense mutation identified may be less deleterious than
      those previously described. As this mutation occurs in a protein domain with no
      predicted function, it could be responsible for a conformational change affecting
      the protein catalytic function, since a non-polar amino acid is replaced by a
      charged residue.
FAU - Manouvrier-Hanu, S
AU  - Manouvrier-Hanu S
AD  - Consultation de Genetique Clinique, Hopital Jeanne de Flandre, CHRU, Lille,
      France.
FAU - Amiel, J
AU  - Amiel J
FAU - Jacquot, S
AU  - Jacquot S
FAU - Merienne, K
AU  - Merienne K
FAU - Moerman, A
AU  - Moerman A
FAU - Coeslier, A
AU  - Coeslier A
FAU - Labarriere, F
AU  - Labarriere F
FAU - Vallee, L
AU  - Vallee L
FAU - Croquette, M F
AU  - Croquette MF
FAU - Hanauer, A
AU  - Hanauer A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - EC 2.7.11.1 (Ribosomal Protein S6 Kinases)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - Genetic Linkage
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - *Mutation, Missense
MH  - Phenotype
MH  - Ribosomal Protein S6 Kinases/*genetics
MH  - Syndrome
MH  - X Chromosome
PMC - PMC1734232
EDAT- 1999/10/21 00:00
MHDA- 1999/10/21 00:01
CRDT- 1999/10/21 00:00
PHST- 1999/10/21 00:00 [pubmed]
PHST- 1999/10/21 00:01 [medline]
PHST- 1999/10/21 00:00 [entrez]
AID - 10.1136/jmg.36.10.775 [doi]
PST - ppublish
SO  - J Med Genet. 1999 Oct;36(10):775-8. doi: 10.1136/jmg.36.10.775.