Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
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.
Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan.
Andrea H
AH
Seeley
Mark A
MA
Durham
Mark A
MA
Micale
Jeffrey
J
Wesolowski
Bradley R
BR
Foerster
Donna M
DM
Martin
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010641:Phenotype
FBXO31; JPH3; MAP1LC3B; SLC7A5; deletion syndrome; macrocerebellum