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

• Main Authors: Rosenfeld Jill A, Hudson Beth, Fan Zheng, Traylor Ryan N, Shaffer Lisa G, Torchia Beth S, Ballif Blake C
• Format: Article
• Language: English
• Published: BMC 2009-08-01
• Series: Molecular Cytogenetics
• Online Access: http://www.molecularcytogenetics.org/content/2/1/17

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Results</p> <p>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 <it>de novo </it>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 (<it>EPHA7</it>), 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).</p> <p>Discussion</p> <p>Our results suggest that deletion of <it>EPHA7 </it>plays a role in the neurologic and dysmorphic features, including developmental delay, hypotonia, and ear malformations, observed in some 6q deletion patients.</p>