A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome

Affiliations

¹ The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
² Pediatric Neurodevelopment Service, Meuchedet Health Services.
³ Medical Genetics Institute, Shaare Zedek Medical Center and Hebrew University-Hadassah School of Medicine, Jerusalem.
⁴ The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

Hagit Goldenstein et al. Clin Dysmorphol. 2021.

. 2021 Oct 1;30(4):181-185.

doi: 10.1097/MCD.0000000000000380.

¹ The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa.
² Pediatric Neurodevelopment Service, Meuchedet Health Services.
³ Medical Genetics Institute, Shaare Zedek Medical Center and Hebrew University-Hadassah School of Medicine, Jerusalem.
⁴ The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

No abstract available

References

1. Chen TH, Kambal A, Krysiak K, Walshauser MA, Raju G, Tibbitts JF, Walter MJ (2011). Knockdown of Hspa9, a del(5q31.2) gene, results in a decrease in hematopoietic progenitors in mice. Blood 117:1530–1539.
1. Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, et al. (2019). De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am J Hum Genet 104:758–766.
1. Ducamp S, Fleming MD (2019). The molecular genetics of sideroblastic anemia. Blood 133:59–69.
1. Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, et al. (2014). Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet 94:268–277.
1. Feng T, Yamamoto A, Wilkins SE, Sokolova E, Yates LA, Münzel M, et al. (2014). Optimal translational termination requires C4 lysyl hydroxylation of eRF1. Mol Cell 53:645–654.