Clinical features and identification of LEMD3 gene mutation in 4 osteopoikilosis patients

VernacularTitle:四例骨斑点症临床特点分析和LEMD3基因突变检测
Author: Moru LI ; Fei GAO ; Zhanying WEI ; Weiwei HU ; Zhenlin ZHANG
Keywords: Osteopoikilosis; Gene mutation; LAP2-emerin-MAN1 domain-containing protein 3 gene
From: Chinese Journal of Endocrinology and Metabolism 2017;33(5):402-407
CountryChina
Language:Chinese
Abstract: Objective To analyze the clinical features and the mutation of LEMD3 gene in four osteopoikilosis patients.Methods Clinical data of 4 patients were collected, peripheral blood samples were obtained for DNA extract, and LEMD3 gene mutation was analyzed by direct DNA sequencing.Results 4 patients with osteopoikilosis included a male aged 44, a female aged 42, a 26-year-old male, a 21-year-old female.All these patients were from families of non-consanguineous marriage.The main complaint of these patients was pain on arthrosis.Abnormal X-ray radiography was found in medical examination, while markers of bone metabolism were normal.The results of X-ray examination showed that numerous, discrete round or ovoid calcification were scattered throughout the wrist, pelvis and scapula.A de novo mutation c.595delG(NM_014319.4) localized in exon1 of the LEMD3 gene resulting in p.Ala199ProfsX46 of Case 3, while the mutation is not found in his parents and the remaining 3 patients.Conclusions A de novol LEMD3 mutation led to osteopoikilosis was found, and the pathogenesis of molecular mechanism in Chinese remained further exploration.