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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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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Related Experiment Video

Updated: Oct 27, 2025

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
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New phenotype caused by POMGNT2 mutations.

Marco Cassone1, Chiara Fiorillo2, Federico Zara3,4

  • 1Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy marcocassone@yahoo.it.

BMJ Case Reports
|July 24, 2021
PubMed
Summary
This summary is machine-generated.

This case report details a new intermediate phenotype of muscular dystrophy-dystroglycanopathy in a child. The study identifies a novel POMGNT2 gene mutation, advancing genotype-phenotype correlations for this condition.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Muscular dystrophy-dystroglycanopathy (MDD) encompasses a spectrum of congenital disorders.
Keywords:
congenital disordersgeneticsneuro geneticsneuromuscular disease

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  • Type A MDD, particularly the 8 form, is associated with severe brain and eye anomalies.
  • Understanding genotype-phenotype correlations is crucial for diagnosis and management.