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Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature

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Abstract

Introduction

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.

Conclusion

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.

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Acknowledgments

We are grateful to all family members included in this study for their invaluable participation and cooperation. This study was supported by the National Science Foundation for Young Scholars of China (81100583), Natural Science Foundation of China Hunan Province (12JJ4083).

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Authors and Affiliations

  1. Department of Endocrinology, 3nd Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People’s Republic of China

    Q. Zhang, Z. H. Mo, F. Yang, Y. H. Xie & P. Jin

  2. Department of Anesthesia, The Affiliated Tumor Hospital of Xiangya Medical School of Central South University, Changsha, 410007, Hunan Province, People’s Republic of China

    C. S. Dong

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  1. Q. Zhang
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  2. Z. H. Mo
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  3. C. S. Dong
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  4. F. Yang
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  5. Y. H. Xie
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  6. P. Jin
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Correspondence to P. Jin.

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The authors declare no conflicts of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Zhang, Q., Mo, Z.H., Dong, C.S. et al. Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. J Endocrinol Invest 39, 679–685 (2016). https://doi.org/10.1007/s40618-015-0419-z

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  • DOI: https://doi.org/10.1007/s40618-015-0419-z

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