title: Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.
abstract: We recently found a patient with 46,XY partial gonadal dysgenesis who presented with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation and with a decreased density of myelinated fibers. We found in the patient, a homozygous missense mutation at the initiating codon in exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of translation of the gene. These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves.
authors: The Third Department of Internal Medicine, Kagoshima University School of Medicine, Sakuragaoka, Japan. umehara@m2.kufm.kagoshima-u.ac.jp
authors: Fujio
authors: F
authors: Umehara
authors: Genshu
authors: G
authors: Tate
authors: Kayoko
authors: K
authors: Itoh
authors: Mitsuhiro
authors: M
authors: Osame
mesh_terms: D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D053823:Hedgehog Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D010525:Peripheral Nerves / Q000196:embryology; D011115:Polyneuropathies / Q000235:genetics*; D019849:Sex Determination Processes; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D053823:Hedgehog Proteins; D015534:Trans-Activators