title: [A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].
abstract: We describe a 34-year-old man with hypomyelination, hypogonadotropic hypogonadism, ataxia, and myopia without hypodontia. He was born to non-consanguineous parents, and had an elder brother who showed a similar phenotype. Laboratory studies demonstrated low level of LH, FSH and testosterone. MRI showed hypomyelination, atrophy of the cerebellum and the hypoplastic corpus callosum. Homozygous missensze mutation c.2350G>A (p.Gly784Ser) was found in POLR3A,which codes for the largest subunit of RNA polymerase III. Since PolIII-related leukodystrophies shows various combination of neurologic and non-neurologic features, additional reports will help to confirm the mechanism of this disease.
authors: Department of Neurology, Mie University Graduate School of Medicine, Japan.
authors: Asako
authors: A
authors: Tamura
authors: Atsushi
authors: A
authors: Niwa
authors: Yuichiro
authors: Y
authors: Ii
authors: Ryogen
authors: R
authors: Sasaki
authors: Hidekazu
authors: H
authors: Tomimoto
authors: Hirotomo
authors: H
authors: Saitsu
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D009154:Mutation; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D012320:RNA Polymerase III / Q000235:genetics*
chemical_list: C585825:POLR3A protein, human; D012320:RNA Polymerase III