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Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

ABSTRACT: 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 46XY 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 46XY GD. The patients with the 46XY karyotype developed GD, whereas a patient with the 46XX karyotype did not. These findings further support that DHH has important roles in perineural formation and male gonadal differentiation.

SUBMITTER: Sato NS

PROVIDER: S-EPMC5454394 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

Sato Naoko Saito NS Maekawa Risa R Ishiura Hiroyuki H Mitsui Jun J Naruse Hiroya H Tokushige Shin-Ichi SI Sugie Kazuma K Tate Genshu G Shimizu Jun J Goto Jun J Tsuji Shoji S Shiio Yasushi Y

Annals of clinical and translational neurology 20170522 6

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 46XY 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 46XY GD. The patients with the 46XY karyot ...[more]

PMID: 28589169

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