Phenotype of ST3GAL3 deficient patients: A case and review of the literature

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

doi:10.1016/j.ejmg.2021.104250

Phenotype of ST3GAL3 deficient patients: A case and review of the literature

Eur J Med Genet. 2021 Aug;64(8):104250. doi: 10.1016/j.ejmg.2021.104250. Epub 2021 May 20.

Affiliations

¹ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
² Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Department of Biology, Central Tehran Branch, Islamic Azad University, Tehran, Iran.
⁴ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁶ Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁷ Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: [email protected].

PMID: 34022416
DOI: 10.1016/j.ejmg.2021.104250

Abstract

ST3GAL3 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.

Keywords: Intellectual disability; Motor disorders; ST3GAL3; ST3GAL3 deficiency; Whole-exome sequencing.

Publication types

Case Reports
Review

MeSH terms

Child
Epilepsy / genetics*
Epilepsy / pathology
Homozygote
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Male
Movement
Mutation
Phenotype*
RNA Splice Sites
Sialyltransferases / chemistry
Sialyltransferases / genetics*
Stereotyped Behavior
Syndrome

Substances

RNA Splice Sites
ST3GAL3 protein, human
Sialyltransferases