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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Base Sequence
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Chromosome Aberrations / genetics*
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Codon, Initiator / genetics
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DNA Mutational Analysis
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Disorders of Sex Development
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Exons / genetics
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Female
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Gonadal Dysgenesis / complications*
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Gonadal Dysgenesis / genetics*
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Gonadal Dysgenesis / pathology
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Hedgehog Proteins
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Humans
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Male
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Mice
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Mutation, Missense / genetics*
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Nerve Fibers, Myelinated / pathology
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Polyneuropathies / complications*
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Polyneuropathies / genetics*
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Polyneuropathies / pathology
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Protein Biosynthesis
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Proteins / genetics*
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Syndrome
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Trans-Activators*
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X Chromosome / genetics
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Y Chromosome / genetics
Substances
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Codon, Initiator
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Hedgehog Proteins
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Proteins
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Trans-Activators