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Ann Clin Transl Neurol. 2017 May 22;4(6):415-421. doi: 10.1002/acn3.417. eCollection 2017 Jun.

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

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Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan.
Department of Neurology Tokyo Teishin Hospital Tokyo Japan.
Department of Neurology Nara Medical University Nara Japan.
Department of Surgical Pathology Showa University Fujigaoka Hospital Kanagawa Japan.
Department of Neurology International University of Health and Welfare Mita Hospital Tokyo Japan.


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.

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