ArticleAmerican journal of medical genetics. Part A2014
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- The amino acid transporter LAT1 coordinates proper motor function at the perinatal stage.Cell death & disease · 2026Article
- Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases.FEBS letters · 2025Review
- MiR-3571 modulates traumatic brain injury by regulating the PI3K/AKT signaling pathway via Fbxo31.Cell biochemistry and biophysics · 2024Article
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
- Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.American journal of medical genetics. Part A · 2022Article
- Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.Orphanet journal of rare diseases · 2022Article
- The amino acid transporter Slc7a5 regulates the mTOR pathway and is required for granule cell development.Human molecular genetics · 2020Article
- Isolated macrocerebellum: description of six cases and literature review.Quantitative imaging in medicine and surgery · 2016Article
- SCF ubiquitin ligase-targeted therapies.Nature reviews. Drug discovery · 2014Review
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Authors and funding
6 authors.
Funding
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.
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