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 language | English (US) |
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Pages (from-to) | 2062-2068 |
Number of pages | 7 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 164 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2014 |
Externally published | Yes |
Keywords
- Deletion syndrome
- FBXO31
- JPH3
- MAP1LC3B
- Macrocerebellum
- SLC7A5
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)