Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability

Sara  Cheraghee; Sahar Moghbelinejad; Reza Najafipour

Journal of Inflammatory Diseases

The Official Journal of Qazvin University of Medical Sciences

Current Issue All Issues In Press Accepted Manuscripts Search

Journal Information Editors & Boards Indexing and Listing Sources Reviewer and AE Registration Form Journal Metrics Open Peer Review (OPR)Publication Ethics and Publication Malpractice Statement Support Contact Us

Authors Guide Submit Manuscript

Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability

Author(s):

Sara Cheraghee¹,

Sahar Moghbelinejad²,

Reza Najafipour^2,*

1Department of Molecular Medicine, Faculty of Medical Sciences, Qazvin University of Medical Sciences, Qazvin, Iran.

2Cellular and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran.

Journal of Inflammatory Diseases:Vol. 23, issue 6; 494-503

Article type:Research Article

How to Cite:Sara CheragheeSahar MoghbelinejadReza NajafipourPathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability.J Inflamm Dis.23(6):e156189.

Abstract

Background Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Genetic diseases account for 50% of ID incidents and have important role in its development. One of the most important risk factors of ID in most countries is consanguineous marriage. In consanguineous families, the risk of developing autosomal recessive ID is 3.6-fold higher. There is high prevalence of consanguineous marriage in Iran (about 40 %). Objective In this study, we aimed to investigate the pathological variants of aminoacyl-trna-synthetase-interacting multifunctional protein 1 (AIMP1) in an Iranian consanguineous family with multiple-ID affected members. Methods this analytical epidemiological study, whole exome sequencing method was used to examine the molecular etiology in two female ID patients of a consanguineous family living in Qazvin, Iran. Sanger sequencing was carried out for validating potential causative variants in patients, and co-segregation analysis for other family members. Findings A stop-gain variant (p. Arg158*) in the AIMP1 gene was identified as pathological variant in the study family according to American College of Medical Genetics and Genomics guidelines. Conclusion The found variant in the AIMP1 gene caused truncated protein and clinical manifestations such as developmental delay, ID, spastic paraplegia, thin corpus callosum, and speech impairment in the two patients.

Keywords

Whole exome sequencing

AIMP1

Leukodystrophy

Hypomyelinating 3

Intellectual Disability

comments