2020
DOI: 10.1002/jgm.3253
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A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients

Abstract: 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 of NS-ID in an Iranian family. To identify the possible genetic cause(s), whole-exome sequencing wa… Show more

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Cited by 12 publications
(41 citation statements)
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“…Additionally, the patients were screened for neurodevelopmental disorders, hypotonia and intellectual and behavioural abnormalities in accordance with the criteria provided previously 22 …”
Section: Methodsmentioning
confidence: 99%
See 2 more Smart Citations
“…Additionally, the patients were screened for neurodevelopmental disorders, hypotonia and intellectual and behavioural abnormalities in accordance with the criteria provided previously 22 …”
Section: Methodsmentioning
confidence: 99%
“…III.1, III.4, III.6, III.8 and III.12) and also two healthy members (II.4 and III.11) within the family were subjected to paired‐end WES using Illumina HiSeq 4000 platform to a mean per‐sample depth of 100×. The procedure and filtering steps were carried out according to the previous studies 22,28,29 …”
Section: Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…High-throughput sequencing was performed for each captured library on Illumina's HiSeq4000 instrument in accordance with the manufacturer's protocols (Illumina Inc, USA). Analysis of Exome data has been described before in detail (13). In summary, raw reads in FASTQ format were initially aligned onto the hg19 reference genome using BWA 0.7.17 after ensuring the elimination of low-quality reads.…”
Section: Molecular Analysismentioning
confidence: 99%
“…1,4 There are a growing number of rare autosomal recessive genes that may result in DEE phenotypes, one of which includes biallelic variants in ST3GAL3. [5][6][7][8][9][10] The ST3GAL3 gene encodes for the Golgi membrane enzyme, beta-galactosidase-alpha-2,3 sialytransferase-III (ST3GAL3), which is highly expressed in the developing brain. 1,[10][11][12][13] ST3GAL3 is involved in the formation of sialyl epitopes on glycoproteins, which help to determine the functional specificity of glycans, and are also important in brain function and development.…”
Section: Introductionmentioning
confidence: 99%