New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome (OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.
G
G
de Alencastro
D E
DE
McCloskey
S E
SE
Kliemann
C M C
CM
Maranduba
A E
AE
Pegg
X
X
Wang
D R
DR
Bertola
C E
CE
Schwartz
M R
MR
Passos-Bueno
A L
AL
Sertié
D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D013097:Spermine Synthase / Q000235:genetics*; D013577:Syndrome
D013097:Spermine Synthase