Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152025 (polyneuropathy)
 7,862 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 1101 5

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.
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PMID:Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. 1199 Apr 54