Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genetic Lingo

Genetic Lingo

Intellectual Disability

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Pedigree Analysis

Pedigree Analysis

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...

Probability Laws

Probability Laws

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026

Same author

Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation.

Neurogenetics·2026

Same author

Successful Management of Transfusion-Dependent Unstable Hemoglobin Perth with Splenectomy: First Report from Iran and Literature Review.

Hemoglobin·2026

Same author

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.

Orphanet journal of rare diseases·2026

Same author

Impact of fat mass and obesity-associated (FTO) gene variants on adult obesity and overweight: a comprehensive meta-analysis.

BMC endocrine disorders·2026

Same author

Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death.

International journal of genomics·2026

Search research articles

Related Experiment Video

Updated: Oct 12, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

The PTRHD1 Mutation in Intellectual Disability.

Sara Cheraghi^1,2, Sahar Moghbelinejad³, Hossein Najmabadi⁴

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

Archives of Iranian Medicine

|November 24, 2021

Summary

This summary is machine-generated.

A novel mutation in the PTRHD1 gene was identified in an Iranian family with intellectual disability (ID). This finding supports PTRHD1 as a cause of genetic disorders, including ID.

Keywords:

Autosomal recessive intellectual disability Consanguinity Iran Mutation Whole exome sequencing

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Related Experiment Videos

Last Updated: Oct 12, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Area of Science:

Genetics
Neuroscience

Background:

Intellectual disability (ID) is a complex disorder with diverse causes.
Autosomal recessive inheritance patterns are significant in consanguineous families.

Observation:

High-throughput DNA sequencing was employed in an Iranian consanguineous family with two affected individuals.
Whole-exome sequencing identified a potential causative variant, which was validated by Sanger sequencing.

Findings:

A novel homozygous missense mutation, p.Arg122Trp, was discovered in the PTRHD1 gene.
This mutation was present in affected individuals within the family.

Implications:

PTRHD1 is a recently identified candidate gene for ID and Parkinsonism.
The identified mutation expands the known clinical spectrum of PTRHD1-associated disorders, specifically highlighting its role in intellectual disability.