Premium
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion
Author(s) -
Seeley Andrea H.,
Durham Mark A.,
Micale Mark A.,
Wesolowski Jeffrey,
Foerster Bradley R.,
Martin Donna M.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36569
Subject(s) - dysautonomia , intellectual disability , cytoarchitecture , biology , epilepsy , microarray , gene , genetics , cerebellum , socioemotional selectivity theory , medicine , pathology , neuroscience , gene expression , disease
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.