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Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. 2020

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

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. Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. 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. 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.

UI MeSH Term Description Entries
D007492 Iran A country bordering the Gulf of Oman, the Persian Gulf, and the Caspian Sea, between Iraq and Pakistan. The capital is Tehran. Islamic Republic of Iran
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005260 Female Females
D006130 Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073359 Exome Sequencing Techniques used to determine the sequences of EXONS of an organism or individual. Complete Exome Sequencing,Complete Transcriptome Sequencing,Whole Exome Sequencing,Whole Transcriptome Sequencing,Complete Exome Sequencings,Exome Sequencing, Complete,Exome Sequencing, Whole,Exome Sequencings, Complete,Sequencing, Complete Exome,Sequencing, Complete Transcriptome,Sequencing, Exome,Sequencing, Whole Exome,Sequencing, Whole Transcriptome,Transcriptome Sequencing, Complete,Transcriptome Sequencing, Whole,Transcriptome Sequencings, Complete

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