Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of medical genetics - 1 Aug 2021

Khamirani Hossein Jafari, Zoghi Sina, Faghihi Fatemeh, Dastgheib Seyed Alireza, Hassanipour Hamidreza, Bagher Tabei Seyed Mohammad, Mohammadi Sanaz, Masoudi Marjan, Poorang Shiva, Ehsani Elham, Dianatpour Mehdi

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsy
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Movement

Share to RNA Splice Sites

Share to Sialyltransferases

Share to Stereotyped Behavior

Share to Syndrome

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype of ST3GAL3 deficient patients: A case and review of the literature.PMID 34022416Read ↗

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.Semantic proximity Read ↗

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.Semantic proximity Read ↗

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.Semantic proximity Read ↗

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.Semantic proximity Read ↗

A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.Semantic proximity Read ↗

ST3GAL3 mutations impair the development of higher cognitive functions.Semantic proximity Read ↗

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.Semantic proximity Read ↗

G6PC3 mutations cause non-syndromic severe congenital neutropenia.Semantic proximity Read ↗

A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Semantic proximity Read ↗

Dystonia and parkinsonism in GM1 type 3 gangliosidosis.Semantic proximity Read ↗

[Two siblings of type 3 GM1 gangliosidosis with different clinical features and different ages of onset].Semantic proximity Read ↗

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.