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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

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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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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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Related Experiment Video

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Quantitative Assessment of Cortical Auditory-tactile Processing in Children with Disabilities
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UBE2A-related X-linked intellectual disability.

Roger E Stevenson1, Albert E Chudley2, Anand K Srivastava1

  • 1Greenwood Genetic Center, Greenwood, South Carolina, USA.

Clinical Dysmorphology
|September 5, 2018
PubMed
Summary

UBE2A-related X-linked intellectual disability presents with unique facial features and developmental delays. New cases reveal variations, including adult-onset ataxia and hypogammaglobulinemia, expanding the known phenotype.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • X-linked intellectual disability (XLID) encompasses a heterogeneous group of genetic disorders.
  • UBE2A mutations are a known cause of XLID, associated with specific clinical features.

Observation:

  • Five males from two families with UBE2A-related XLID were studied.
  • Clinical presentation included distinctive facial anomalies, hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability.

Findings:

  • Absence of nail dystrophy in new cases challenges its status as a defining feature.
  • Novel findings include hypogammaglobulinemia and adult-onset ataxia in affected males.

Implications:

  • These observations refine the phenotypic spectrum of UBE2A-related XLID.
  • Highlights the importance of considering broader neurological and immunological assessments in affected individuals.