Ontology highlight
ABSTRACT:
SUBMITTER: MacKenzie KC
PROVIDER: S-EPMC7693350 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
MacKenzie Katherine C KC de Graaf Bianca M BM Syrimis Andreas A Zhao Yuying Y Brosens Erwin E Mancini Grazia M S GMS Schot Rachel R Halley Dicky D Wilke Martina M Vøllo Arve A Flinter Frances F Green Andrew A Mansour Sahar S Pilch Jacek J Stark Zornitza Z Zamba-Papanicolaou Eleni E Christophidou-Anastasiadou Violetta V Hofstra Robert M W RMW Jongbloed Jan D H JDH Nicolaou Nayia N Tanteles George A GA Brooks Alice S AS Alves Maria M MM
Human mutation 20200916 11
Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge, this is the first time that missense variants have been reported in GOSHS. We functio ...[more]