Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 23 12 2020 12 01 Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism 842 847 10.34172/aim.2020.112 EN Goli Kazemi https://orcid.org/0000-0001-8306-818X Fatemeh Peymani Marzieh Mohseni Farzane Zare Ashrafi Sanaz Arzhangi Fariba Ardalani Fatemeh Aghakhani Moghaddam Kimia Kahrizi Hossein Najmabadi https://orcid.org/0000-0002-6084-7778 Journal Article 10.34172/aim.2020.112 2020 06 01 2020 09 20 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.