title: Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
abstract: BACKGROUND
  Osteopoikilosis is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis.
  
  
  METHODS
  We investigated LEMD3 gene in a three-generation family from China, with six patients affected with osteopoikilosis. Peripheral blood samples were collected from family members and 100 healthy controls. All exons of the LEMD3 gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced.
  
  
  RESULTS
  A novel heterozygous c.2612_2613insA (p.Y871X) mutation in exon 13 of LEMD3 was identified, which resulted in a frame shift predicted to generate a premature stop codon at amino acid position 871. The mutation co-segregates with the osteopoikilosis phenotype and was not found in 100 ethnically matched controls.
  
  
  CONCLUSIONS
  We identified a new mutation in LEMD3 gene, accounting for the familial case of osteopoikilosis. In addition we also review the clinical manifestation, diagnosis and treatment of osteopoikilosis.
authors.affiliation: Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Mo
authors.affiliation: Department of Anesthesia, The Affiliated Tumor Hospital of Xiangya Medical School of Central South University, Changsha, 410007, Hunan Province, People's Republic of China.
authors.forename: C S
authors.initials: CS
authors.lastname: Dong
authors.affiliation: Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
authors.forename: F
authors.initials: F
authors.lastname: Yang
authors.affiliation: Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Xie
authors.affiliation: Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China. jping7676@hotmail.com.
authors.forename: P
authors.initials: P
authors.lastname: Jin
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins
keywords: LEMD3 gene; Mutation; Osteoblastic metastasis; Osteopoikilosis