title: A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.
abstract: We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who presented with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation within the endoneurium and with a decreased density of myelinated fibers. We found, in the patient, a homozygous missense mutation (ATG-->ACG) at the initiating codon in exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of translation of the gene. The same heterozygous mutation was found in the patient's father. This is the first report of a human DHH gene mutation, and the findings demonstrate that mutation of the DHH gene may cause 46, XY PGD associated with minifascicular neuropathy.
authors.affiliation: The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan. umehara@med6.kufm.kagoshima-u.ac.jp
authors.forename: F
authors.initials: F
authors.lastname: Umehara
authors.forename: G
authors.initials: G
authors.lastname: Tate
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: N
authors.initials: N
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Douchi
authors.forename: T
authors.initials: T
authors.lastname: Mitsuya
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000818:Animals; D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics*; D018387:Codon, Initiator / Q000235:genetics; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development; D005091:Exons / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D053823:Hedgehog Proteins; D006801:Humans; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011115:Polyneuropathies / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D015534:Trans-Activators; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
chemical_list: D018387:Codon, Initiator; D053823:Hedgehog Proteins; D011506:Proteins; D015534:Trans-Activators