| Nicole C Shaw, Kevin Chen, Kathryn O Farley, Mitchell Hedges, Catherine Forbes, Gareth Baynam, Timo Lassmann, Vanessa S Fea. Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling. Molecular autism. vol 15. issue 1. 2024-10-01. PMID:39350244. |
setbp1 haploinsufficiency disorder (setbp1-hd) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. |
2024-10-01 |
2024-10-03 |
Not clear |
| Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan, Hong-Mei Xia. Novel SETBP1 mutation in a chinese family with intellectual disability. BMC medical genomics. vol 16. issue 1. 2023-10-05. PMID:37798664. |
novel setbp1 mutation in a chinese family with intellectual disability. |
2023-10-05 |
2023-10-07 |
Not clear |
| Naoki Kohyanagi, Takashi Oham. The impact of SETBP1 mutations in neurological diseases and cancer. Genes to cells : devoted to molecular & cellular mechanisms. 2023-07-25. PMID:37489294. |
setbp1 (set-binding protein 1/seb/mrd29), identified as set-binding protein, is the causative gene of schinzel-giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. |
2023-07-25 |
2023-08-14 |
Not clear |
| Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichle. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature genetics. vol 46. issue 10. 2014-12-15. PMID:25217958. |
these genetic changes include haploinsufficiency of setbp1 associated with intellectual disability and loss of expressive language and truncations of zmynd11 in individuals with autism, aggression and complex neuropsychiatric features. |
2014-12-15 |
2023-08-13 |
Not clear |