Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report
<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...
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doaj-85484a9f11fe41c89cf531b6fff43e5c2020-11-25T00:26:42ZengBMCMolecular Cytogenetics1755-81662009-08-01211710.1186/1755-8166-2-17Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportRosenfeld Jill AHudson BethFan ZhengTraylor Ryan NShaffer Lisa GTorchia Beth SBallif Blake C<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> http://www.molecularcytogenetics.org/content/2/1/17 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rosenfeld Jill A Hudson Beth Fan Zheng Traylor Ryan N Shaffer Lisa G Torchia Beth S Ballif Blake C |
spellingShingle |
Rosenfeld Jill A Hudson Beth Fan Zheng Traylor Ryan N Shaffer Lisa G Torchia Beth S Ballif Blake C Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report Molecular Cytogenetics |
author_facet |
Rosenfeld Jill A Hudson Beth Fan Zheng Traylor Ryan N Shaffer Lisa G Torchia Beth S Ballif Blake C |
author_sort |
Rosenfeld Jill A |
title |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report |
title_short |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report |
title_full |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report |
title_fullStr |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report |
title_full_unstemmed |
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report |
title_sort |
microdeletion of 6q16.1 encompassing epha7 in a child with mild neurological abnormalities and dysmorphic features: case report |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2009-08-01 |
description |
<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> |
url |
http://www.molecularcytogenetics.org/content/2/1/17 |
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