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A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

Swati R Chanchani1, Hongyan Xie2, Gurbax Sekhon3

  • 1Department of Pediatrics St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.

Molecular Genetics & Genomic Medicine
|January 18, 2020
PubMed

Insights

A male infant with Xq22.2q22.3 duplication experienced head titubation and spasticity. The PLP1 gene duplication likely influenced his symptoms, though other genes may also contribute to brain development.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • The Xq22.2-q23 region contains genes MID2 and PLP1, linked to FG syndrome 5 and Pelizaeus-Merzbacher disease.
  • Limited data exists on clinical outcomes for deletions in this complex genomic area.
Abstract

Keywords:
MID2PLP1FG syndromeOpitz-Kaveggia syndrome type 5Pelizaeus-Merzbacher disease

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