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

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Cheraghi Sara; MOGHBELINEJAD SAHAR; NAJAFIPOUR REZA

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Journal: Journal of Inflammatory Diseases Year:2020 | Volume:23 | Issue:6 (107) Page(s): 494-503

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Title

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

Author(s)

Cheraghi Sara | MOGHBELINEJAD SAHAR | NAJAFIPOUR REZA | Issue Writer Certificate

Keywords

Whole exome sequencingQ1

AIMP1Q1

LeukodystrophyQ1

Hypomyelinating 3Q1

Intellectual DisabilityQ1

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-synthetaseinteracting 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.

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APA: Copy

Cheraghi, Sara, MOGHBELINEJAD, SAHAR, & NAJAFIPOUR, REZA. (2020). Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability. JOURNAL OF INFLAMMATORY DISEASES (THE JOURNAL OF QAZVIN UNIVERSITY OF MEDICAL SCIENCES), 23(6 (107) ), 494-503. SID. https://sid.ir/paper/363769/en

Vancouver: Copy

Cheraghi Sara, MOGHBELINEJAD SAHAR, NAJAFIPOUR REZA. Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability. JOURNAL OF INFLAMMATORY DISEASES (THE JOURNAL OF QAZVIN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2020;23(6 (107) ):494-503. Available from: https://sid.ir/paper/363769/en

IEEE: Copy

Sara Cheraghi, SAHAR MOGHBELINEJAD, and REZA NAJAFIPOUR, “Pathological Variants of Aminoacyl-tRNA-synthetase-Interacting Multifunctional Protein 1 Gene in an Iranian Consanguineous Family With Autosomal Recessive Intellectual Disability,” JOURNAL OF INFLAMMATORY DISEASES (THE JOURNAL OF QAZVIN UNIVERSITY OF MEDICAL SCIENCES), vol. 23, no. 6 (107) , pp. 494–503, 2020, [Online]. Available: https://sid.ir/paper/363769/en

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