Open AccessPartial duplication of DHH causes minifascicular neuropathy
Author(s) -
Sato Naoko Saito,
Maekawa Risa,
Ishiura Hiroyuki,
Mitsui Jun,
Naruse Hiroya,
Tokushige Shinichi,
Sugie Kazuma,
Tate Genshu,
Shimizu Jun,
Goto Jun,
Tsuji Shoji,
Shiio Yasushi
Publication year - 2017
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.417
Subject(s) - gonadal dysgenesis , medicine , karyotype , mutation , gene duplication , dysgenesis , genetics , bioinformatics , anatomy , chromosome , biology , gene
Minifascicular neuropathy ( MN ) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46 XY gonadal dysgenesis ( GD ) was found to carry a mutation affecting the start codon in desert hedgehog ( DHH ). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN , confirming mutations in DHH cause MN with 46 XY GD . The patients with the 46 XY karyotype developed GD , whereas a patient with the 46 XX karyotype did not. These findings further support that DHH has important roles in perineural formation and male gonadal differentiation.