Phenotype of ST3GAL3 Deficient Patients: a Case and Review of the Literature

Eur J Med Genet. 2021 May 19:104250. doi: 10.1016/j.ejmg.2021.104250. Online ahead of print.ABSTRACTST3GAL3 deficiency is an extremely rare autosomal recessive disorder caused by pathogenic mutations in the ST3GAL3 gene. Epilepsy, motor development delay, severe intellectual disability, and behavioral disorders have been reported to be associated with ST3GAL3 deficiency. In the present study, ST3GAL3 deficiency was caused by a homozygous splice-site mutation (NM_174964.4: c.936+1delG) in ST3GAL3. The patient described in this study was clinically similar to previously reported cases; nevertheless, we were able to detect repetitive behavior, previously not reported manifestations.PMID:34022416 | DOI:10.1016/j.ejmg.2021.104250

Source: European Journal of Medical Genetics - May 22, 2021 Category: Genetics & Stem Cells Authors: Hossein Jafari Khamirani Sina Zoghi Fatemeh Faghihi Seyed Alireza Dastgheib Hamidreza Hassanipour Seyed Mohammad Bagher Tabei Sanaz Mohammadi Marjan Masoudi Shiva Poorang Elham Ehsani Mehdi Dianatpour Source Type: research