Objective: To determine the prevalence of SLC6A17 mutations in a cohort of Iranian patients with intellectual disability and movement disorders.

Background: Mutations in the SLC6A17 gene were recently shown to cause a syndrome characterized by moderate to severe intellectual disability, progressive upper limb tremor, mild facial dysmorphisms, speech impairment and behavioral disturbances. Two mutations, c.484G>A, p.Gly162Arg and c.1898 C>G, p. Pro633Arg, were identified in a Dutch and Iranian consanguineous family respectively. The SLC6A17 gene encodes a protein predominantly expressed in the nervous system and thought to be involved in vesicular transport of specific amino acids and glutamate in glutamatergic synapses.

Methods: Twenty-three consanguineous Iranian families presenting with intellectual disability and movement disorders were identified. All SLC6A17 coding exons and 50bp of flanking sequence were amplified by PCR in all probands. Genomic primers for PCR amplifications and sequencing were designed using the public website ExonPrimer. PCR products were purified with ExoSAP-IT (Affymetrix), sequenced with Applied Biosystem BigDye Terminator v3.1 sequencing chemistry as per the manufacturer’s instructions, and analyzed using Sequencher 5.2 software.

Results: We did not identify a mutation in the SLC6A17 gene in our cohort. Interestingly, certain families did display homozygosity for known SNPs in the sequenced region.

Conclusions: We report that mutations in the SLC6A17 gene are not a common cause of autosomal-recessive intellectual disability with associated movement disorders in a large cohort of consanguineous Iranian families. Further genetic studies are underway to identify novel causes of intellectual disability and movement disorders in our cohort.

« Back to 2016 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/slc6a17-mutations-are-not-a-common-cause-of-intellectual-disability-and-movement-disorders-in-a-large-cohort-of-consanguineous-iranian-families/