This is a preview of subscription content, log in via an institution to check access.
References
Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W.C., et al. (2008). Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40, 232–236.
Hall, J.G., Flora, C., Scott, C.I., Pauli, R.M., and Tanaka, K.I. (2004). Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet 130A, 55–72.
Klingseisen, A., and Jackson, A.P. (2011). Mechanisms and pathways of growth failure in primordial dwarfism. Gene Dev 25, 2011–2024.
Li, F.F., Wang, X.D., Zhu, M.W., Lou, Z.H., Zhang, Q., Zhu, C.Y., Feng, H. L., Lin, Z.G., and Liu, S.L. (2015). Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. Metab Brain Dis 30, 1387–1394.
Li, Q., Hansen, D., KillIa, A., Joshi, H.C., Palazzo, R.E., and Balczon, R. (2001). Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1. J Cell Sci 114, 797–809.
Majewski, A., Burdelski, M., and Hampel, V. (1982). Infantile scurvy in glucose-galactose malabsorption (in German). Rontgenblatter 35, 447–449.
Miller, D.T., Adam, M.P., Aradhya, S., Biesecker, L.G., Brothman, A.R., Carter, N.P., Church, D.M., Crolla, J.A., Eichler, E.E., Epstein, C.J., et al. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86, 749–764.
Rauch, A. (2011). The shortest of the short: pericentrin mutations and beyond. Best Practice Res Clin Endocrinol Metab 25, 125–130.
Sam, C., Li, F.F., and Liu, S.L. (2015). Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle. Metab Brain Dis 30, 1105–1116.
Tan, Y.Q., Tan, K., Zhang, S.P., Gong, F., Cheng, D.H., Xiong, B., Lu, C.F., Tang, X.C., Luo, K.L., Lin, G., et al. (2013). Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Hum Reprod 28, 2581–2592.
Tibelius, A., Marhold, J., Zentgraf, H., Heilig, C.E., Neitzel, H., Ducommun, B., Rauch, A., Ho, A.D., Bartek, J., and Krämer, A. (2009). Microcephalin and pericentrin regulate mitotic entry via centrosomeassociated Chk1. J Cell Biol 185, 1149–1157.
Willems, M., Geneviève, D., Borck, G., Baumann, C., Baujat, G., Bieth, E., Edery, P., Farra, C., Gerard, M., Héron, D., et al. (2010). Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 47, 797–802.
Acknowledgements
We are grateful to the family for their involvement in this study. This work was supported by the National Natural Science Foundation of China (81771645, 81471432 to Yueqiu Tan).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Meng, L., Tu, C., Lu, G. et al. Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. Sci. China Life Sci. 62, 144–147 (2019). https://doi.org/10.1007/s11427-018-9329-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11427-018-9329-3