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A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly
Journal article   Open access   Peer reviewed

A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly

Jaime Imitola, Divya S Khurana, Nadiya M Teplyuk, Mark Zucker, Reena Jethva, Agustin Legido, Ana M Krichevsky, Michael Frangieh, Christopher A Walsh and Karen S Carvalho
American journal of medical genetics. Part A, v 167A(11), pp 2808-2816
Nov 2015
DOI: https://doi.org/10.1002/ajmg.a.37268
PMID: 26238961
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011536View
Accepted (AM)Open Access (License Unspecified),  Open

Abstract

Cephalometry Child, Preschool Chromosome Deletion Chromosomes, Artificial, Bacterial - genetics Chromosomes, Human, Pair 2 - genetics Comparative Genomic Hybridization Developmental Disabilities - complications Developmental Disabilities - genetics Epilepsy - complications Epilepsy - genetics Female Gene Expression Regulation Humans Intracellular Signaling Peptides and Proteins - genetics Microcephaly - complications Microcephaly - genetics Neural Stem Cells - metabolism Phenotype Protein Serine-Threonine Kinases - genetics
2q37 microdeletion syndrome is a rare syndrome characterized by neurodevelopmental delay, bone, cardiovascular, and neurological alterations. This syndrome is typically associated with loss of genetic material of approximately 100 genes in the 2q37 band. However, the genes associated with neurodevelopmental phenotype in this syndrome are still unknown. We identified a deleted region of 496 kb by whole genome array CGH in a patient who fulfilled criteria for 2q37 microdeletion syndrome with developmental delay, microcephaly, hypoplasia of the corpus callosum, hand wringing, toe walking, and seizures. The deleted segment contains genes that are highly expressed in the developing human cortical plate and the subventricular zone (SVZ) in vivo and human neural progenitors in vitro, including SEPT2, THAP4, ATG4B, PPP1R7, and STK25. Network analysis revealed that STK25 was the most interacting gene associated with neural development in this deletion. Our report narrows the likely causative genomic region for microcephaly and neurodevelopmental delay in 2q37 microdeletion syndrome to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum.

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Collaboration types
Domestic collaboration
Web of Science research areas
Genetics & Heredity
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