Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion. Issue 8 (9th April 2014)

• Record Type: Journal Article
• Authors: Seeley, Andrea H.; Durham, Mark A.; Micale, Mark A.; Wesolowski, Jeffrey; Foerster, Bradley R.; Martin, Donna M.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 8(2014.)
• Page Start: 2062
• Page End: 2068
• Publication Date: 2014-04-09
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36569
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36569-sec-0001" sec-type="section"> <p>Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report on a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, dysautonomia, gut malrotation, and poor gut motility. Oligonucleotide chromosome microarray analysis identified a 16q24.1–q24.2 deletion that included four OMIM genes (<italic>FBXO31</italic>, <italic>MAP1LC3B</italic>, <italic>JPH3</italic>, and <italic>SLC7A5</italic>). Review of prior studies describing individuals with similar or overlapping16q24.1–q24.2 deletions identified no other reports of macrocerebellum. These observations highlight a potential genetic cause of this rare disorder and raise the possibility that one or more gene(s) in the 16q24.1–q24.2 interval regulate cerebellar development. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>