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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Translation01:31

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Lesson: Translation
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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[Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis].

Erzsébet Kövesdi1, Kinga Hadzsiev, Katalin Komlósi

  • 1Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs Szigeti út 12. 7623 Pécsi Tudományegyetem, Általános Orvostudomáyi Kar, Szentágothai Kutatóközpont, Pécs. kovesdi.erzsebet@ptc.hu

Orvosi Hetilap
|June 4, 2013
PubMed
Summary

Tuberous sclerosis, a genetic disorder causing tumors, shows varied symptoms in a Hungarian family due to a TSC1 gene mutation. This case highlights the complex genetic factors influencing disease presentation.

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Area of Science:

  • Genetics
  • Neurology
  • Oncology

Background:

  • Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder characterized by tumor predisposition.
  • Mutations in TSC1 or TSC2 genes lead to TSC, manifesting with diverse clinical signs including brain tumors and organ abnormalities.

Observation:

  • A Hungarian family presented with significant phenotypic variability in TSC.
  • A 5-year-old boy exhibited numerous symptoms, including seizures and intracranial calcifications.
  • Other family members displayed a range of symptoms, from asymptomatic to epilepsy and renal cysts, despite carrying the same mutation.

Findings:

  • Molecular genetic analysis identified a de novo heterozygous point mutation (c.2524 C>T) in exon 20 of the TSC1 gene.
  • This mutation was confirmed in all affected and unaffected family members, indicating its inheritance within the family.
  • The study confirmed the mutation in all examined family members.

Implications:

  • This case underscores the significant intra- and interfamilial phenotypic variability observed in tuberous sclerosis.
  • Understanding genetic modifiers is crucial for predicting TSC progression and patient outcomes.
  • Further research into genetic factors influencing TSC variability is warranted to improve clinical management.