期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 8, 页码 2062-2068出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36569
关键词
macrocerebellum; FBXO31; MAP1LC3B; JPH3; SLC7A5; deletion syndrome
资金
- National Institutes of Health [R01 DC009410]
- University of Michigan Donita B. Sullivan MD Research Professorship Funds
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 overlapping 16q24.1-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. (C) 2014 Wiley Periodicals, Inc.
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