Defective ST3GAL3 causes MCT12 and EIEE15

Stable Identifier
R-HSA-3656243
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ST3GAL3 causes mental retardation, autosomal recessive 12 and early infantile epileptic encephalopathy-15
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General
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CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (ST3GAL3) mediates the transfer of sialic acid from CMP-sialic acid to galactose-containing glycoproteins and forms the sialyl Lewis a epitope on proteins which are required for attaining and/or maintaining higher cognitive functions. Some defects in ST3GAL3 result in mental retardation, autosomal recessive 12 (MRT12; MIM:611090), a disorder characterised by below average general intellectual function and impaired adaptive behaviour (Najmabadi et al. 2007, Hu et al. 2011). Another defect of ST3GAL3 can cause early infantile epileptic encephalopathy-15 (EIEE15: MIM:615006), resulting in severe mental retardation (Edvardson et al. 2012).

Literature References
PubMed ID Title Journal Year
23252400 West syndrome caused by ST3Gal-III deficiency

Edvardson, S, Baumann, AM, Mühlenhoff, M, Stephan, O, Kuss, AW, Shaag, A, He, L, Zenvirt, S, Tanzi, R, Gerardy-Schahn, R, Elpeleg, O

Epilepsia 2013
21907012 ST3GAL3 mutations impair the development of higher cognitive functions

Hu, H, Eggers, K, Chen, W, Garshasbi, M, Motazacker, MM, Wrogemann, K, Kahrizi, K, Tzschach, A, Hosseini, M, Bahman, I, Hucho, T, Mühlenhoff, M, Gerardy-Schahn, R, Najmabadi, H, Ropers, HH, Kuss, AW

Am. J. Hum. Genet. 2011
17120046 Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Najmabadi, H, Motazacker, MM, Garshasbi, M, Kahrizi, K, Tzschach, A, Chen, W, Behjati, F, Hadavi, V, Nieh, SE, Abedini, SS, Vazifehmand, R, Firouzabadi, SG, Jamali, P, Falah, M, Seifati, SM, Grüters, A, Lenzner, S, Jensen, LR, Rüschendorf, F, Kuss, AW, Ropers, HH

Hum. Genet. 2007
Participants
Participant Of
Disease
Name Identifier Synonyms
developmental disorder of mental health 0060037
Authored
Reviewed
Created