2017年6月
Partial duplication of DHH causes minifascicular neuropathy A novel mutation detection of DHH
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
- 巻
- 4
- 号
- 6
- 開始ページ
- 415
- 終了ページ
- 421
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/acn3.417
- 出版者・発行元
- WILEY
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.
- リンク情報
- ID情報
-
- DOI : 10.1002/acn3.417
- ISSN : 2328-9503
- PubMed ID : 28589169
- Web of Science ID : WOS:000405985300007