Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Nicole J Van Bergen^{1

2}, John Christodoulou^{1

2

3

4}

Affiliations

¹ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
² Department of Paediatrics, University of Melbourne, Melbourne, Australia.
³ Victorian Clinical Genetics Services, Royal Children's Hospital, VIC, Australia.
⁴ Kids Research, The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

Comment

Nicole J Van Bergen et al. Brain. 2020.

. 2020 Apr 1;143(4):e30.

doi: 10.1093/brain/awaa047.

Nicole J Van Bergen^{1

2}, John Christodoulou^{1

2

3

4}

¹ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
² Department of Paediatrics, University of Melbourne, Melbourne, Australia.
³ Victorian Clinical Genetics Services, Royal Children's Hospital, VIC, Australia.
⁴ Kids Research, The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

No abstract available

Comment on

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Kaur P, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046. Brain. 2020. PMID: 32125366 No abstract available.