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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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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

LIS1 duplication: expanding the phenotype.

Jason P Lockrow1, Kenton R Holden, Alka Dwivedi

  • 1Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA.

Journal of Child Neurology
|December 23, 2011
PubMed
Summary
This summary is machine-generated.

A partial LIS1 gene duplication caused microcephaly and white matter atrophy in a child. This finding expands the known LIS1 gene abnormality phenotypes beyond lissencephaly.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • LIS1 gene expression disruptions cause neuronal migration abnormalities.
  • LIS1 heterozygosity is a primary cause of lissencephaly.
  • LIS1 overexpression is linked to microcephaly and ventriculomegaly.

Observation:

  • A child presented with microcephaly, neurodevelopmental delays, and white matter atrophy.
  • The child had a partial LIS1 gene duplication within the first intron.
  • Initial imaging showed normal gyration but mild volume loss, progressing to severe white matter loss and ventriculomegaly.

Findings:

  • A novel partial LIS1 duplication was identified.
  • The duplication occurred in a transcription-inducer region of the LIS1 gene.
  • The patient exhibited a unique radiographic pattern not previously associated with LIS1 abnormalities.

Implications:

  • Altered LIS1 gene expression presents a broader spectrum of phenotypic manifestations.
  • This case expands the understanding of LIS1-related neurodevelopmental disorders.
  • Further research into LIS1 intron function is warranted to understand transcriptional regulation.