Abstract
Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or monoallelic mutations in the myosin heavy chain 3 gene. We herein report the case of a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome who had a homozygous frameshift mutation in the refilin A gene (RFLNA) [c.241delC, p.(Leu81Cysfs*111)], which encodes one of the filamin-binding proteins. Refilins, filamins, and myosins play critical roles in forming perinuclear actin caps, which change the nuclear morphology during cell migration and differentiation. The present study implies that RFLNA is an additional causative gene for spondylocarpotarsal synostosis syndrome in humans and a defect in forming actin bundles and perinuclear actin caps may be a critical mechanism for the development of spondylocarpotarsal synostosis syndrome.
References
Mar 3, 2004·Nature Genetics·Deborah KrakowDaniel H Cohn
Jul 20, 2007·Human Molecular Genetics·Claire Farrington-RockDeborah Krakow
May 7, 2008·Proceedings of the National Academy of Sciences of the United States of America·Ben-Yang Liao, Jianzhi Zhang
Oct 24, 2009·Proceedings of the National Academy of Sciences of the United States of America·Shyam B KhatauDenis Wirtz
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jul 21, 2010·Genome Research·Aaron McKennaMark A DePristo
Aug 21, 2010·Trends in Cell Biology·Sarah GibbJ Kim Dale
Jun 29, 2011·Proceedings of the National Academy of Sciences of the United States of America·Olivia GayJacques Baudier
Sep 9, 2011·BMC Research Notes·Hiroyuki MishimaKoh-Ichiro Yoshiura
Mar 8, 2013·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Khaled FendriFlorina Moldovan
Jan 18, 2014·Human Molecular Genetics·Koji MizuhashiTakahisa Furukawa
Feb 17, 2017·Scientific Reports·Jennifer ZiebaDeborah Krakow
Jul 26, 2017·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Qiming XuGuixing Qiu
Feb 3, 2018·Translational Psychiatry·Yoshiro MorimotoShinji Ono
Mar 23, 2018·Clinical Genetics·S SalianK M Girisha