Pagnamenta, AT;
Diaz-Gonzalez, F;
Banos-Pinero, B;
Ferla, MP;
Toosi, MB;
Calder, AD;
Karimiani, EG;
... Taylor, JC; + view all
(2022)
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Journal of medical genetics
, 59
(10)
pp. 947-950.
10.1136/jmedgenet-2021-108027.
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Abstract
The 100 000 Genomes Project (100KGP) is a UK-wide initiative that has a goal of using whole genome sequencing (WGS) to identify genetic causes of rare inherited diseases and embed the use of this technology within the NHS.1 Using data from this resource alongside international gene-matching efforts, four individuals from two independent families were identified harbouring homozygous frameshift or stop-gain variants in PRKG2, a recently described skeletal dysplasia gene.2 Detailed clinical and radiological assessments helped extend the phenotypic range associated with this autosomal recessive condition while functional studies indicated that both variants had a similar impact on FGF-induced MAPK signalling.
| Type: | Article |
|---|---|
| Title: | Variable skeletal phenotypes associated with biallelic variants in PRKG2 |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/jmedgenet-2021-108027 |
| Publisher version: | http://dx.doi.org/10.1136/jmedgenet-2021-108027 |
| Language: | English |
| Additional information: | © Author(s) (or their employer[s]) 2022. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license (https://creativecommons.org/licenses/by/4.0/). |
| Keywords: | codon, frameshift mutation, genomics, musculoskeletal diseases, nonsense, phenotype, Alleles, Bone and Bones, Cyclic GMP-Dependent Protein Kinase Type II, Humans, Mutation, Phenotype |
| UCL classification: | 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 > Department of Neuromuscular Diseases UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10157733 |
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