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Am J Med Genet A. 2022 Jan;188(1):369-372. doi: 10.1002/ajmg.a.62519. Epub 2021 Sep 24.

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

American journal of medical genetics. Part A

Noa Ruhrman-Shahar, Nurit Assia Batzir, Gabriel Arie Lidzbarsky, Lily Bazak, Nurit Magal, Lina Basel-Salmon

Affiliations

  1. Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  2. Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  3. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  4. Felsenstein Medical Research Center, Petach Tikva, Israel.

PMID: 34559457 DOI: 10.1002/ajmg.a.62519

[No abstract available.]

References

  1. Abou Tayoun, A. N., Pesaran, T., DiStefano, M. T., Oza, A., Rehm, H. L., Biesecker, L. G., Harrison, S. M., & ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). (2018). Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Human Mutation, 39(11), 1517-1524. https://doi.org/10.1002/humu.23626 - PubMed
  2. DiStefano, M. T., Hemphill, S. E., Cushman, B. J., Bowser, M. J., Hynes, E., Grant, A. R., Siegert, R. K., Oza, A. M., Gonzalez, M. A., Amr, S. S., Rehm, H. L., & Abou Tayoun, A. N. (2018). Curating clinically relevant transcripts for the interpretation of sequence variants. The Journal of Molecular Diagnostics, 20(6), 789-801. https://doi.org/10.1016/j.jmoldx.2018.06.005 - PubMed
  3. Frankish, A., Uszczynska, B., Ritchie, G. R., Gonzalez, J. M., Pervouchine, D., Petryszak, R., Mudge, J. M., Fonseca, N., Brazma, A., Guigo, R., & Harrow, J. (2015). Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. BMC Genomics, 16(Suppl 8), S2. https://doi.org/10.1186/1471-2164-16-S8-S2 - PubMed
  4. Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M., & Matsumoto, N. (2003). Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. Journal of Medical Genetics, 40(1), 51-54. https://doi.org/10.1136/jmg.40.1.51 - PubMed
  5. Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., Sugimoto, T., Sonoda, T., Hasegawa, T., Chinen, Y., Tomita, H. A., Kinoshita, A., Mizuguchi, T., Yoshiura, K. I., Ohta, T., … Matsumoto, N. (2002). Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genetics, 30(4), 365-366. https://doi.org/10.1038/ng863 - PubMed
  6. Laccetta, G., Moscuzza, F., Michelucci, A., Guzzetta, A., Lunardi, S., Lorenzoni, F., & Ghirri, P. (2017). A novel missense mutation of the NSD1 gene associated with overgrowth in three generations of an Italian family: Case report, differential diagnosis, and review of mutations of NSD1 gene in familial Sotos syndrome. Frontiers in Pediatrics, 5, 236. https://doi.org/10.3389/fped.2017.00236 - PubMed
  7. Martinez, H. R., Belmont, J. W., Craigen, W. J., Taylor, M. D., & Jefferies, J. L. (2011). Left ventricular noncompaction in Sotos syndrome. American Journal of Medical Genetics. Part A, 155A(5), 1115-1118. https://doi.org/10.1002/ajmg.a.33838 - PubMed
  8. McCarthy, D. J., Humburg, P., Kanapin, A., Rivas, M. A., Gaulton, K., Cazier, J. B., & Donnelly, P. (2014). Choice of transcripts and software has a large effect on variant annotation. Genome Medicine, 6(3), 26. https://doi.org/10.1186/gm543 - PubMed
  9. Nykamp, K., Anderson, M., Powers, M., Garcia, J., Herrera, B., Ho, Y. Y., Kobayashi, Y., Patil, N., Thusberg, J., Westbrook, M., Invitae Clinical Genomics Group, & Topper, S. (2017). Sherloc: A comprehensive refinement of the ACMG-AMP variant classification criteria. Genetics in Medicine, 19(10), 1105-1117. https://doi.org/10.1038/gim.2017.37 - PubMed
  10. Pezzani, L., Mauri, L., Selicorni, A., Peron, A., Grasso, M., Codazzi, A. C., Rimini, A., Marchisio, P. G., Coviello, D., Colli, A., & Milani, D. (2020). Aortic dilation in Sotos syndrome: An underestimated feature? American Journal of Medical Genetics. Part A, 182(7), 1819-1823. https://doi.org/10.1002/ajmg.a.61591 - PubMed
  11. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405-424. https://doi.org/10.1038/gim.2015.30 - PubMed
  12. Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D., Fromer, M., Ferreira, P. G., Smith, K. S., Zhang, R., Zhao, F., Banks, E., Poplin, R., Ruderfer, D. M., Purcell, S. M., Tukiainen, T., … MacArthur, D. G. (2015). Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science, 348(6235), 666-669. https://doi.org/10.1126/science.1261877 - PubMed
  13. Schoch, K., Tan, Q. K., Stong, N., Deak, K. L., McConkie-Rosell, A., McDonald, M. T., Undiagnosed Diseases Network, Goldstein, D. B., Jiang, Y. H., & Shashi, V. (2020). Alternative transcripts in variant interpretation: The potential for missed diagnoses and misdiagnoses. Genetics in Medicine, 22(7), 1269-1275. https://doi.org/10.1038/s41436-020-0781-x - PubMed
  14. Sotos, J. F., Dodge, P. R., Muirhead, D., Crawford, J. D., & Talbot, N. B. (1964). Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. The New England Journal of Medicine, 271, 109-116. https://doi.org/10.1056/NEJM196407162710301 - PubMed
  15. Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Cole, T. R., Das, S., Horn, D., Hughes, H. E., Temple, I. K., Faravelli, F., Waggoner, D., Turkmen, S., Cormier-Daire, V., Irrthum, A., Rahman, N., & Childhood Overgrowth Collaboration. (2005). Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations. American Journal of Human Genetics, 77(2), 193-204. https://doi.org/10.1086/432082 - PubMed
  16. Tatton-Brown, K., & Rahman, N. (2013). The NSD1 and EZH2 overgrowth genes, similarities and differences. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 163C(2), 86-91. https://doi.org/10.1002/ajmg.c.31359 - PubMed

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