Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

Andrea H. Seeley, Mark A. Durham, Mark A. Micale, Jeffrey Wesolowski, Bradley R. Foerster, Donna M. Martin

Research output: Contribution to journalArticlepeer-review

Abstract

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 (FBXO31, MAP1LC3B, JPH3, and SLC7A5). 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.

Original languageEnglish (US)
Pages (from-to)2062-2068
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number8
DOIs
StatePublished - Aug 2014

Keywords

  • Deletion syndrome
  • FBXO31
  • JPH3
  • MAP1LC3B
  • Macrocerebellum
  • SLC7A5

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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