F. Umehara et al., A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy, AM J HU GEN, 67(5), 2000, pp. 1302-1305
Citations number
12
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
We describe a patient with 46,XY partial gonadal dysgenesis (PGD) who prese
nted 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 exo
n 1 of the desert hedgehog (DHH) gene, which predicts a failure of translat
ion 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 find
ings demonstrate that mutation of the DHH gene may cause 46,XY PGD associat
ed with minifascicular neuropathy.