Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

TitleRhombencephalosynapsis: Fused cerebellum, confused geneticists.
Publication TypeJournal Article
Year of Publication2018
AuthorsAldinger, KA, Dempsey, JC, Tully, HM, Grout, ME, Mehaffey, MG, Dobyns, WB, Doherty, D
JournalAm J Med Genet C Semin Med Genet
Date Published2018 Dec

Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and limb defects). Similar to known genetic brain malformations, the RES cerebellar malformation is highly stereotyped, yet no genetic causes have been identified. Here, we outline our current understanding of the genetic basis for RES, discuss limitations, and outline future approaches to identifying the causes of this fascinating brain malformation.

Alternate JournalAm J Med Genet C Semin Med Genet
PubMed ID30580482
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States
U54 HD083091 / HD / NICHD NIH HHS / United States
U54HG006493 / / National Human Genome Research Institute /
R01 NS050375 / NS / NINDS NIH HHS / United States
U54HD083091 / / National Institute of Child Health and Human Development /
R01NS050375 / / National Institute of Neurological Disorders and Stroke /