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Am J Hum Genet. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2.

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

Author information

  • 1The Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan. umehara@med6.kufm.kagoshima-u.ac.jp

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.

PMID:
11017805
[PubMed - indexed for MEDLINE]
PMCID:
PMC1288570
Free PMC Article

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