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

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 8; pp. 2062 - 2068
• Main Authors: Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2014; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Cerebellum - abnormalities; Cerebellum - pathology; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 16; deletion syndrome; Epilepsy - genetics; FBXO31; Female; Genetic Association Studies; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability - diagnosis; Intellectual Disability - genetics; JPH3; macrocerebellum; Magnetic Resonance Imaging; MAP1LC3B; Phenotype; SLC7A5; SLC7A5; macrocerebellum; MAP1LC3B; JPH3; deletion syndrome; FBXO31
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36569

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. © 2014 Wiley Periodicals, Inc.