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
- 巻
- 143A
- 号
- 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
- ID情報
-
- DOI : 10.1002/ajmg.a.31983
- ISSN : 1552-4825
- Web of Science ID : WOS:000250668800014