Novel SNX13 Frameshift Variant in an Individual with Developmental Delay
Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID). The sorting nexin (SNX) protein family plays multiple roles in protein trafficking and intracellular signaling. SNXs have been reported to be associated with several disorders, including Alzheimer disease and Down syndrome. Despite the growing evidence of an association of SNXs with neurodegeneration, SNX13 deficiency has not been associated with GDD or ID. In this study, we present the case of a 4-year-old boy with brain dysplasia and GDD, including language delay, cognitive delay, and dyskinesia. Exome sequencing revealed a 1-bp homozygous deletion in SNX13 (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a frameshift and predicted early termination. Sanger sequencing confirmed that the variant was inherited from his parents respectively. Our findings associate SNX13 variation with GDD for the first time and provide a new GDD candidate gene.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Novel SNX13 Frameshift Variant in an Individual with Developmental Delay ; volume:161 ; number:10-11 ; year:2022 ; pages:514-519 ; extent:6
Cytogenetic and genome research ; 161, Heft 10-11 (2022), 514-519 (gesamt 6)
- Creator
-
Tao, Xicheng
Che, Yueping
Li, Chenxi
Ruan, Wencong
Xu, Jialu
Yu, Yonglin
Yang, Fan
Wang, Jia
Li, Haifeng
- DOI
-
10.1159/000520296
- URN
-
urn:nbn:de:101:1-2022012623342543726405
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:31 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Tao, Xicheng
- Che, Yueping
- Li, Chenxi
- Ruan, Wencong
- Xu, Jialu
- Yu, Yonglin
- Yang, Fan
- Wang, Jia
- Li, Haifeng
Other Objects (12)
Functional determinant approach investigations of heavy impurity physics
The impact of regulatory change on hedge fund performance
A survey of empirical literature on hedge fund performance
Investigation of the Interaction, Nonlinear and Dissipation Effects in Nano-Membrane Resonators by Optical Interferometry
Artificial Humic Acids: Sustainable Materials against Climate Change
Effects of different finishing procedures and materials on surface roughness of infiltrated subsurface bovine enamel lesions
Unravelling the Toolbox of Mussel Underwater Adhesion
A Zernike-moment-based non-local denoising filter for cryo-EM images
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
Understanding and processing sketch maps : proceedings of the COSIT 2011 workshop, Belfast, Maine, USA, September 2011
Effect of Surfactant on the Preparation of Nano-powder for Yb Doping Laser Transparent YAG Ceramic
Thermal Modeling and Inversion of Borehole Temperature Data
Functional determinant approach investigations of heavy impurity physics
The impact of regulatory change on hedge fund performance
A survey of empirical literature on hedge fund performance
Investigation of the Interaction, Nonlinear and Dissipation Effects in Nano-Membrane Resonators by Optical Interferometry
Artificial Humic Acids: Sustainable Materials against Climate Change
Effects of different finishing procedures and materials on surface roughness of infiltrated subsurface bovine enamel lesions
Unravelling the Toolbox of Mussel Underwater Adhesion
A Zernike-moment-based non-local denoising filter for cryo-EM images
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
Understanding and processing sketch maps : proceedings of the COSIT 2011 workshop, Belfast, Maine, USA, September 2011
Effect of Surfactant on the Preparation of Nano-powder for Yb Doping Laser Transparent YAG Ceramic
Thermal Modeling and Inversion of Borehole Temperature Data
Functional determinant approach investigations of heavy impurity physics
The impact of regulatory change on hedge fund performance
A survey of empirical literature on hedge fund performance
Investigation of the Interaction, Nonlinear and Dissipation Effects in Nano-Membrane Resonators by Optical Interferometry
Artificial Humic Acids: Sustainable Materials against Climate Change
Effects of different finishing procedures and materials on surface roughness of infiltrated subsurface bovine enamel lesions
Unravelling the Toolbox of Mussel Underwater Adhesion
A Zernike-moment-based non-local denoising filter for cryo-EM images
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
Understanding and processing sketch maps : proceedings of the COSIT 2011 workshop, Belfast, Maine, USA, September 2011
Effect of Surfactant on the Preparation of Nano-powder for Yb Doping Laser Transparent YAG Ceramic