Literature summary for 2.4.1.224 extracted from

Farhan, S.M.; Wang, J.; Robinson, J.F.; Prasad, A.N.; Rupar, C.A.; Siu, V.M.; Siu, V.M.; Hegele, R.A.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses (2015), J. Med. Genet., 52, 666-675.

Search for more literature for 2.4.1.224

Cloned(Commentary)

Cloned (Comment)	Organism
gene EXT2, genotyping, autozygosity mapping	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
M87R	naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome	Homo sapiens
R95C	naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q93063	Mennonite population, gene EXT2	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	skin-derived	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
EXT2	-	Homo sapiens
heparan sulfate synthesis enzyme	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	phenotype of four patients showing clinical seizures-scoliosis-macrocephaly syndrome with seizures and macrocephaly due to decreased EXT2 expression and mutations M87R and R95C. SSM syndrome is characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. Phenotype, overview	Homo sapiens

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Release 2023.1 (January 2023)