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Related Concept Videos

Intellectual Disability01:29

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...
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Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural

Marta Calvo1,2, Giuseppe Reynolds1,2, Maria Luca3

  • 1Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.

Genes
|June 26, 2026
PubMed
Summary

Autosomal recessive intellectual developmental disorder-13 (MRT13) is caused by TRAPPC9 variants. This study reviews 76 patients, finding intellectual disability in all cases and highlighting cryptic structural variants in TRAPPC9.

Keywords:
MRT13NF-κBTRAPPC9intellectual disabilitymicrocephalyneurodevelopmental disorderoptical genome mapping

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Published on: December 1, 2017

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Autosomal recessive intellectual developmental disorder-13 (MRT13) is a rare neurodevelopmental disorder linked to pathogenic variants in the TRAPPC9 gene.
  • While single nucleotide variants (SNVs) and copy number variants (CNVs) are commonly reported, complex structural variants (SVs) in TRAPPC9 remain poorly understood.

Purpose of the Study:

  • To comprehensively review the clinical and molecular spectrum of TRAPPC9-related disorder.
  • To harmonize existing variant data and explore genotype-phenotype correlations.
  • To expand the known mutational spectrum by characterizing a novel patient with a complex SV.

Main Methods:

  • A systematic literature search was conducted across multiple databases (PubMed, Embase, etc.) from 2009 to 2026.
  • Clinical and molecular data from 75 previously reported patients and one novel patient were extracted and analyzed.
  • The novel patient's diagnosis involved array-CGH, whole-exome sequencing, karyotyping, and optical genome mapping.

Main Results:

  • The study cohort comprised 76 patients with TRAPPC9-related disorder, all exhibiting intellectual disability.
  • Common features include brain MRI abnormalities (95.9%), microcephaly (82.3%), motor delay (71.4%), and dysmorphic features (69.8%).
  • A novel patient presented with biallelic TRAPPC9 disruption due to a maternal intragenic deletion and a paternal balanced translocation, highlighting cryptic SVs.

Conclusions:

  • The TRAPPC9-related disorder presents a recognizable phenotype predominantly characterized by intellectual disability and loss-of-function variants.
  • Cryptic structural variants contribute significantly to the TRAPPC9 mutational spectrum.
  • Advanced genomic techniques are crucial for diagnosing complex SVs in neurodevelopmental disorders.