UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Mutation of TBCK causes a rare recessive developmental disorder

Guerreiro, RJ; Brown, R; Dian, D; de Goede, C; Bras, J; Mole, SE; (2016) Mutation of TBCK causes a rare recessive developmental disorder. Neurology: Genetics , 2 (3) , Article e76. 10.1212/NXG.0000000000000076. Green open access

[thumbnail of Guerreiro et al TBCK 2016.pdf]
Preview
Text
Guerreiro et al TBCK 2016.pdf - Published Version

Download (469kB) | Preview

Abstract

OBJECTIVE: To characterize the underlying genetic defect in a family with 3 siblings affected by a severe, yet viable, congenital disorder. METHODS: Extensive genetic and metabolic investigations were performed, and the affected children were imaged at different ages. Whole-genome genotyping and whole-exome sequencing were undertaken. A single large region (>8 Mb) of homozygosity in chromosome 4 (chr4:100,268,553-108,609,628) was identified that was shared only in affected siblings. Inspection of genetic variability within this region led to the identification of a novel mutation. Sanger sequencing confirmed segregation of the mutation with disease. RESULTS: All affected siblings share homozygosity for a novel 4-bp deletion in the gene TBCK (NM_033115:c.614_617del:p.205_206del). CONCLUSIONS: This finding provides the genetic cause of a severe inherited disease in a family and extends the number of mutations and phenotypes associated with this recently identified disease gene.

Type: Article
Title: Mutation of TBCK causes a rare recessive developmental disorder
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/NXG.0000000000000076
Publisher version: http:/​/​dx.​doi.​org/​10.​1212/​NXG.​000000000000...
Language: English
Additional information: Copyright © 2016 American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1493465
Downloads since deposit
170Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item