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

Authors: Umehara, F  Tate, G  Itoh, K  Yamaguchi, N  Douchi, T  Mitsuya, T  Osame, M 
Citation: Umehara F, etal., Am J Hum Genet. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2.
Pubmed: (View Article at PubMed) PMID:11017805
DOI: Full-text: DOI:10.1016/S0002-9297(07)62958-9

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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CRRD Object Information
CRRD ID: 1601053
Created: 2007-04-04
Species: All species
Last Modified: 2007-04-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.