Periventricular Cysts, Developmental Impairment in a 9q21.13q21.32 Microdeletion, and a Review of the Literature

Abstract

Genetic mutations are the underlying etiology of multiple neurodevelopmental disorders; some of which are associated with unique features on brain magnetic resonance imaging. Although the number of new mutations related to developmental impairments is steadily growing given the increased accessibility to advanced technologies, the mainstay of diagnosis still relies on physical examination and distinct presentation on brain imaging. We present the first report of cystic brain lesions associated with 9q21.13q21.32 microdeletion. The deletion overlapped with 11 RefSeq genes, including 3 OMIM Morbid Map genes. The clinical phenotype and the presence of periventricular cysts were unique and did not correlate with any disease known to be caused by a mutation in the region. We suggest that a few genes in the deleted region may be strong candidates implicated in neurodevelopmental disorders and the formation of cystic brain lesions.

Keywords

developmental delay - hypotonia - 9q21.13q21.32 microdeletion

Note

This study makes use of data generated by the DECIPHER Consortium. A full list of centers who contributed to the generation of these data is available at http://decipher.sanger.ac.uk/ and via email from [e-mail]. Funding for the project was provided by the Wellcome Trust.

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