論文

査読有り
2007年11月

Mandibuloacral dysplasia and a novel LMNA mutationin in a woman with severe progressive skeletal changes

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Tomoki Kosho
  • Jun Takahashi
  • Takashige Momose
  • Akinori Nakamura
  • Akihiro Sakurai
  • Takahito Wada
  • Kunihiro Yoshida
  • Keiko Wakui
  • Takefumi Suzuki
  • Kazuo Kasuga
  • Gen Nishimura
  • Hiroyuki Kato
  • Yoshimitsu Fukushima
  • 全て表示

143A
21
開始ページ
2598
終了ページ
2603
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/ajmg.a.31983
出版者・発行元
WILEY-LISS

A 56-year-old Japanese woman with mandibuloacral dysplasia and type A lipodystrophy is described. Mutation analysis identified a homozygous missense Mutation (1585G > A) in exon 9 of the LMNA gene that replaces well-conserved residue alanine at position 529 to threonine (A529T). The woman showed, in addition to the usual clinical manifestations of the disorder, severe progressive skeletal changes: osteoporotic changes with multiple fractures; osteolysis of the right radius; and destructive changes of the vertebrae, leading to compression of the cervical spinal cord and paraplegia. Laboratory findings included markedly reduced bone mineral density; significantly increased urine N-telopeptide of collagen type 1, an osteoclast marker, and normal serum bone specific alkaline phosphatase, an osteoblast marker. Regular follow up of adult patients with the disorder is desirable, including skeletal radiography, estimates of bone mineral density, and biochemical markers of bone turnover. Treatment with bisphosphonates to inhibit osteoclast activity is likely to be beneficial. (c) 2007 Wiley-Liss, Inc.

リンク情報
DOI
https://doi.org/10.1002/ajmg.a.31983
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000250668800014&DestApp=WOS_CPL
ID情報
  • DOI : 10.1002/ajmg.a.31983
  • ISSN : 1552-4825
  • Web of Science ID : WOS:000250668800014

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