Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: a case report

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  • Traylor, Ryan N
    • Other Affiliation: Signature Genomic Laboratories
  • Fan, Zheng
    • Affiliation: School of Medicine, Department of Pediatrics
  • Hudson, Beth
    • Affiliation: School of Medicine, Department of Pediatrics
  • Rosenfeld, Jill A
    • Other Affiliation: Signature Genomic Laboratories
  • Shaffer, Lisa G
    • Other Affiliation: Signature Genomic Laboratories
  • Torchia, Beth S
    • Other Affiliation: Signature Genomic Laboratories
  • Ballif, Blake C
    • Other Affiliation: Signature Genomic Laboratories
Abstract
  • Abstract Background Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation. Results We report a 16-month-old male presenting with developmental delay and dysmorphic features who was found by array-based comparative genomic hybridization (aCGH) to have a ~2.16 Mb de novo deletion within chromosome band 6q16.1 that encompasses only two genes. Expression studies of the mouse homologue of one of the genes, the ephrin receptor 7 gene (EPHA7), have shown the gene functions during murine embryogenesis to form cortical domains, determine brain size and shape, and play a role in development of the central nervous system (CNS). Discussion Our results suggest that deletion of EPHA7 plays a role in the neurologic and dysmorphic features, including developmental delay, hypotonia, and ear malformations, observed in some 6q deletion patients.
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  • Article
Rights statement
  • In Copyright
Rights holder
  • Ryan N Traylor et al.; licensee BioMed Central Ltd.
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Journal title
  • Molecular Cytogenetics
Journal volume
  • 2
Journal issue
  • 1
Page start
  • 17
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1755-8166
Bibliographic citation
  • Molecular Cytogenetics. 2009 Aug 07;2(1):17
Publisher
  • BioMed Central Ltd
Access right
  • Open Access
Date uploaded
  • August 23, 2012

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