Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
https://doi.org/10.17650/2222-8721-2018-8-1-34-37
Abstract
Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.
About the Authors
I. V. Sharkova
Research Center of Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Center of Medical Genetics
Russian Federation
Russian Federation
References
1. Ikeda T., Zhang J., Chano T. et al. Identification and characterization of the human long form of SOX5 (L-SOX5) gene. Gene 2002;298(1):59–68. DOI: 10.1016/S0378- 1119(02)00927-7. PMID: 12406576.
2. Kwan K.Y., Lam M.M., Krsnik Ž. et al. SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons. Proc Natl Acad Sci USA 2008;105(41):16021–6. DOI: 10.1073/ pnas.0806791105. PMID: 18840685.
3. Kamachi Y., Kondoh H. SОХ proteins: regulators of cell fate specification and differentiation. Development 2013;140(20):4129–44. DOI: 10.1242/ dev.091793. PMID: 24086078.
4. Lee R.W., Bodurtha J., Cohen J. et al. Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. Pediatr Neurol 2013;48(4):317–20. DOI: 10.1016/j.pediatrneurol.2012.12.013. PMID: 23498568.
5. Lamb A.N., Rosenfeld J.A., Neill N.J. et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 2012;33(4):728–40. DOI: 10.1002/humu.22037. PMID: 22290657.
6. Nesbitt A., Bhoj E.J., McDonald Gibson K. et al. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: a case presentation with review of SOX-related disorders. Am J Med Genet 2015;167A(11):2548–54. DOI: 10.1002/ ajmg.a.37221. PMID: 26111154.
7. Schanze I., Schanze D., Bacino C.A. et al. Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. Eur J Med Genet 2013;56(2):108–13. DOI: 10.1016/j. ejmg.2012.11.001. PMID: 23220431.
8. Lelieveld S.H., Reijnders M.R., Pfundt R. et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci 2016;19(9): 1194–6. DOI: 10.1038/nn.4352. PMID: 27479843.
9. Zech M., Poustka K., Boesch S. et al. SOX5-null heterozygous mutation in a family with adult-onset hyperkinesia and behavioral abnormalities. Case Rep Genet 2017;2017:2721615. DOI: 10.1155/2017/ 2721615. PMID: 29214085.
Review
For citations:
Sharkova I.V., Dadali E.L. Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation. Neuromuscular Diseases. 2018;8(1):34-37. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-1-34-37
Views:
3293
Email this article 