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Related Concept Videos

Intellectual Disability01:29

Intellectual Disability

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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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Learning Disabilities01:25

Learning Disabilities

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Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
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Covalently Linked Protein Regulators02:04

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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X-linked Traits01:19

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Sex-linked Disorders01:43

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities
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X-linked intellectual disability update 2017.

Giovanni Neri1,2, Charles E Schwartz1, Herbert A Lubs1

  • 1J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

American Journal of Medical Genetics. Part A
|April 27, 2018
PubMed
Summary
This summary is machine-generated.

Genetic research has identified 141 X-linked intellectual disability (XLID) genes, a 96% increase in a decade. However, understanding the impact of these genetic changes on patient diagnosis and treatment remains a challenge.

Keywords:
X-chromosomeXLIDgenesintellectual disabilitysyndrome

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Area of Science:

  • Genetics
  • Neuroscience
  • Genomic Medicine

Background:

  • The X-chromosome, despite its small size, harbors a significant proportion of genes linked to intellectual disability.
  • Previous research identified 72 X-linked intellectual disability (XLID) genes.

Purpose of the Study:

  • To document the recent advancements in identifying XLID-associated genes.
  • To highlight the gap between genetic discoveries and their clinical and biological applications.

Main Methods:

  • High-throughput technologies, including high-resolution microarrays and next-generation sequencing.
  • Review of genetic and genomic alterations associated with XLID.

Main Results:

  • The number of identified XLID genes has increased by 96%, from 72 to 141 in the last 10 years.
  • Duplications in all 141 identified XLID genes have been documented.
  • Despite progress in gene identification, clinical diagnostic tools and therapeutic strategies have not advanced commensurately.

Conclusions:

  • While high-throughput technologies have significantly accelerated the discovery of XLID genes, this progress has not translated into improved clinical diagnostics or therapeutic options.
  • Further research is needed to understand the functional impact of identified genetic alterations on cellular organization and function to inform patient care and develop targeted therapies.