title: Mutations in RNF216 do not cause 4H syndrome.
abstract: We comment on the recent publication by Ganos et al. [1] classifying a patient with non-specific white matter abnormalities, cerebellar atrophy, hypogonadotropic hypogonadism and absent lower median incisors as 4H syndrome. He had mutations in RNF216. Mutations in this gene cause Gordon-Holmes syndrome, distinct from 4H syndrome.
authors.affiliation: Department of Child Neurology, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, The Netherlands. Electronic address: n.wolf@vumc.nl.
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
authors.affiliation: Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada. Electronic address: genevieve.bernard@mcgill.ca.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
mesh_terms: D002524:Cerebellar Ataxia / Q000235:genetics*; D020278:Demyelinating Autoimmune Diseases, CNS / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases
keywords: 4H leukodystrophy; Ataxia; Gordon–Holmes syndrome; Hypogonadotropic hypogonadism; Hypomyelination