TY - JOUR
T1 - Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder
AU - Menke, Leonie A.
AU - Engelen, Marc
AU - Alders, Mariel
AU - Odekerken, Vincent J. J.
AU - Baas, Frank
AU - Cobben, Jan M.
PY - 2016
Y1 - 2016
N2 - In 2 unrelated patients with axial hypotonia, developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged. From the 26 patients reported thus far, 12 patients had epileptic encephalopathy, and 14 had a developmental delay and a hyperkinetic movement disorder. All but 1 of the latter patients had missense mutations in GNAO1 codon 209 or 246, which thus appear to be mutation hotspots. At least 2 sibling pairs showed that the recurrence risk after 1 affected child with a GNAO1 mutation might be relatively high (5-15%), due to apparent gonadal mosaicism in the parents
AB - In 2 unrelated patients with axial hypotonia, developmental delay and a hyperkinetic movement disorder, a missense mutation was found in codon 209 of the GNAO1 gene. From the still scarce literature on GNAO1 mutations, a clear genotype-phenotype correlation emerged. From the 26 patients reported thus far, 12 patients had epileptic encephalopathy, and 14 had a developmental delay and a hyperkinetic movement disorder. All but 1 of the latter patients had missense mutations in GNAO1 codon 209 or 246, which thus appear to be mutation hotspots. At least 2 sibling pairs showed that the recurrence risk after 1 affected child with a GNAO1 mutation might be relatively high (5-15%), due to apparent gonadal mosaicism in the parents
U2 - https://doi.org/10.1177/0883073816666474
DO - https://doi.org/10.1177/0883073816666474
M3 - Article
C2 - 27625011
SN - 0883-0738
VL - 31
SP - 1598
EP - 1601
JO - Journal of child neurology
JF - Journal of child neurology
IS - 14
ER -