Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia

Clinical GeneticsEarly View RESEARCH LETTER Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia Payal Kamdar, Payal Kamdar Clinical Genetics, Christian Medical College, Vellore, IndiaSearch for more papers by this authorThenral S. Geetha, Thenral S. Geetha MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorThomas Palocaren, Thomas Palocaren Paediatric Orthopaedics, Christian Medical College, Vellore, IndiaSearch for more papers by this authorMadhavi Kandagaddala, Madhavi Kandagaddala Clinical Radiology, Christian Medical College, Vellore, IndiaSearch for more papers by this authorPraveen Kumar Chinniah, Praveen Kumar Chinniah Clinical Radiology, Christian Medical College, Vellore, IndiaSearch for more papers by this authorSakthivel Murugan, Sakthivel Murugan MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorRamprasad Vedam, Ramprasad Vedam MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorSumita Danda, Corresponding Author Sumita Danda [email protected] Clinical Genetics, Christian Medical College, Vellore, India Correspondence Sumita Danda, Clinical Genetics, Christian Medical College, Vellore, India. Email: [email protected]Search for more papers by this author Payal Kamdar, Payal Kamdar Clinical Genetics, Christian Medical College, Vellore, IndiaSearch for more papers by this authorThenral S. Geetha, Thenral S. Geetha MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorThomas Palocaren, Thomas Palocaren Paediatric Orthopaedics, Christian Medical College, Vellore, IndiaSearch for more papers by this authorMadhavi Kandagaddala, Madhavi Kandagaddala Clinical Radiology, Christian Medical College, Vellore, IndiaSearch for more papers by this authorPraveen Kumar Chinniah, Praveen Kumar Chinniah Clinical Radiology, Christian Medical College, Vellore, IndiaSearch for more papers by this authorSakthivel Murugan, Sakthivel Murugan MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorRamprasad Vedam, Ramprasad Vedam MedGenome Labs, Bengaluru, IndiaSearch for more papers by this authorSumita Danda, Corresponding Author Sumita Danda [email protected] Clinical Genetics, Christian Medical College, Vellore, India Correspondence Sumita Danda, Clinical Genetics, Christian Medical College, Vellore, India. Email: [email protected]Search for more papers by this author First published: 10 December 2023 https://doi.org/10.1111/cge.14465 Payal Kamdar and Thenral S. Geetha are co first authors. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Graphical Abstract This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination. Open Research PEER REVIEW The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/cge.14465. DATA AVAILABILITY STATEMENT Data availability statement is available on request. REFERENCES 1Díaz-González F, Wadhwa S, Rodriguez-Zabala M, et al. Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. J Med Genet. 2022; 59(1): 28-38. doi:10.1136/jmedgenet-2020-107177 10.1136/jmedgenet-2020-107177 CASPubMedWeb of Science®Google Scholar 2Koltes JE, Kumar D, Kataria RS, Cooper V, Reecy JM. Transcriptional profiling of PRKG2-null growth plate identifies putative down-stream targets of PRKG2. BMC Res Notes. 2015; 30(8): 177. doi:10.1186/s13104-015-1136-6 10.1186/s13104-015-1136-6 Google Scholar 3Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, et al. Variable skeletal phenotypes associated with biallelic variants in PRKG2. J MedGenet. 2022; 59(10): 947-950. doi:10.1136/jmedgenet-2021-108027 10.1136/jmedgenet?2021?108027 Google Scholar 4Mollaoğlu E, UludağAlkaya D, Yıldız CA, Kasap B, Tüysüz B. Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2. Clin Genet. 2022; 103: 574-579. doi:10.1111/cge.14277 10.1111/cge.14277 PubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation