Open AccessA novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
Author(s) -
Noraldin Al-Deri,
Volkan Okur,
Priyanka Ahimaz,
Miroslav P. Milev,
Zaheer Valivullah,
Jacob Hagen,
Yufeng Sheng,
Wendy K. Chung,
Michael Sacher,
Mythily Ganapathi
Publication year - 2020
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2020-107016
Subject(s) - missense mutation , neurodevelopmental disorder , phenotype , biology , genetics , exome sequencing , signal transducing adaptor protein , loss function , global developmental delay , protein subunit , gene
Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membrane trafficking, was reported in two unrelated individuals with neurodevelopmental delay, post-infectious encephalopathy-associated developmental arrest, tetraplegia and accompanying rhabdomyolysis.