Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 67, Issue 5, Pages 1302-1305Publisher
UNIV CHICAGO PRESS
DOI: 10.1016/S0002-9297(07)62958-9
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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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