• Title of article

    Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

  • Author/Authors

    Kazemi, Goli Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Peymani, Fatemeh Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Mohseni, Marzieh Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Zare Ashrafi, Farzane Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Arzhangi, Sanaz Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Ardalani, Fariba Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Aghakhani Moghaddam, Fatemeh Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Kahrizi, Kimia Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran , Najmabadi, Hossein Genetics Research Center - University of Social Welfare and Rehabilitation Sciences - Tehran - Iran

  • Pages
    6
  • From page
    842
  • To page
    847
  • Abstract
    Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. Methods: Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. Results: Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in LARP7 gene, indicating the diagnosis of Alazami syndrome. Conclusion: These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism. Keywords:
  • Keywords
    Intellectual disability , LARP7 , Mutation , Phenotype , Whole exome sequencing
  • Journal title
    Archives of Iranian Medicine
  • Serial Year
    2020
  • Record number

    2631557

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2631557