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Article

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

The journal of gene medicine - 1 Nov 2020

Farajollahi Zahra, Razmara Ehsan, Heidari Erfan, Jafarinia Ehsan, Garshasbi Masoud

Abstract excerpt

BACKGROUND: The number of reported genes causing non-syndromic autosomal recessive intellectual disability (NS-ARID) is increasing. For example, mutations in the ST3GAL3 gene have been reported to be associated with NS-ARID. In the present study, we aimed to determine the genetic cause of the NS-ARID in a five-generation consanguineous Iranian family. METHODS: We subjected four patients with an initial diagnosis...

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PMID: 32666583
DOI: 10.1002/jgm.3253

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