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Methods: A pregnant woman presenting on 4 December 2024 was enrolled; fetal and parental genomic DNA was analyzed using trio clinical whole-exome sequencing, with candidate variants confirmed by Sanger sequencing and supported by bioinformatics. Results: Prenatal ultrasound showed bilateral postaxial polydactyly and intrauterine growth restriction; WES found a de novo heterozygous PRKACB exon 8 variant classified likely pathogenic. Conclusion: The PRKACB c.802 G > A (p.Asp268Asn) variant is a potential genetic cause, expanding the mutational spectrum and aiding counselling and prenatal diagnosis.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/a-novel-prkacb-variant-associated-with-bilateral-postaxial-polydactyly-and-intrauterine-growth-restriction-a-case-report-and-literature-review/411989/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/a-novel-prkacb-variant-associated-with-bilateral-postaxial-polydactyly-and-intrauterine-growth-restriction-a-case-report-and-literature-review/411989.png","ImageObject",300,407,{"name":42,"@type":43},"Aldword","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-11-02","2026-09-28",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",13,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What clinical features were observed in the fetus in this study?","Question",{"text":63,"@type":64},"Prenatal ultrasonography revealed bilateral postaxial polydactyly and biometric measurements inconsistent with gestational age, leading to diagnoses of intrauterine growth restriction and polydactyly.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How was the PRKACB variant identified and validated?",{"text":68,"@type":64},"Trio whole-exome sequencing was performed, and the candidate variant was validated by Sanger sequencing, followed by bioinformatics analysis and ACMG guideline-based interpretation.",{"name":70,"@type":61,"acceptedAnswer":71},"What is the significance of the PRKACB c.802 G > A (p.Asp268Asn) variant?",{"text":72,"@type":64},"It was interpreted as likely pathogenic and predicted to alter PRKACB protein structural stability, providing a potential genetic cause of bilateral postaxial polydactyly and expanding the known mutational spectrum.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},411989,1790736414,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,120,123,127],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & 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\nGlobal Medical Genetics  \n[homepage:](homepage: www.keaipublishing.com/en/journals/gmg/)[ www.keaipublishing.com/en/journals/gmg/](homepage: www.keaipublishing.com/en/journals/gmg/)  \nA novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review  \nYan Zhang1, Wenlong Shen1, Yaer Lv, Jue Zhao, Junjie Wu, Yang Wang, Xujun He, Xiaohua Tang⁎  \nLaboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China  \nA R T I C L E I N F O  \nKeywords:  \nPRKACB  \nPostaxial polydactyly Intrauterine Growth Restriction Prenatal diagnosis  \nA B S T R A C T  \nObjective: To characterize the clinical features of a fetus with postaxial polydactyly caused by a de novo PRKACB gene variant and to perform a genetic analysis.  \nMethods: A pregnant woman who presented to Zhejiang Provincial People's Hospital on 4 December 2024 was enrolled in this study. Fetal clinical data were collected, and genomic DNA was extracted from the fetus and both parents. Clinical whole-exome sequencing (WES) was performed on the trio (fetus and both parents). Candidate variants were identified and validated by Sanger sequencing, followed by bioinformatics analysis. This study was approved by the Medical Ethics Committee of Zhejiang Provincial People’s Hospital (approval number: QT2025076).  \nResults: Prenatal ultrasonography revealed bilateral postaxial polydactyly and several fetal biometric measurements that were inconsistent with gestational age. The clinical diagnoses were intrauterine growth restriction and polydactyly. WES identified a de novo heterozygous variant (c.802 G > A; p.Asp268Asn) in exon 8 of the fetal PRKACB gene (NM_ 182948.4). According to the ACMG variant-classification guidelines, this variant was interpreted as likely pathogenic (PS2_Moderate, PM1, PM2_Supporting and PP3). AlphaFold-based structural prediction indicated that the PRKACB p.Asp268Asn substitution resulted in the loss of two hydrogen bonds, thereby altering the protein's three-dimensional conformation and affecting structural stability. Conclusion: The PRKACB gene c.802 G > A (p.Asp268Asn) variant is a potential genetic cause of bilateral postaxial polydactyly in the fetus. Identification of this variant expands the known mutational spectrum of PRKACB gene and provides an important reference for genetic counselling and prenatal diagnosis.  \nPeer review under responsibility of Editorial Board of Global Medical Genetics.  \n⁎ Corresponding author.  \nE-mail address: [tsh006@163.com](tsh006@163.com) (X. Tang).  \n1 Yan Zhang and Wenlong Shen contributed equally.  \n[https://doi.org/10.1016/j.gmg.2025.100085](https://doi.org/10.1016/j.gmg.2025.100085)  \nReceived 22 November 2025; Received in revised form 1 December 2025; Accepted 2 December 2025 Available online 6 December 2025  \n2699-9404/© 2025 The Authors. Publishing services by Elsevier B.V. on behalf ofKeAi Communications Co. Ltd. This is an open access article under the CC BY-NC-ND license ([http://creativecommons.org/licenses/by-nc-nd/4.0/](http://creativecommons.org/licenses/by-nc-nd/4.0/)).  \nIntroduction  \nPolydactyly is a congenital limb deformity characterized by an excessive number of digits and is categorized into syndromic and nonsyndromic forms [1]. Nonsyndromic polydactyly is subdivided into preaxial polydactyly, central polydactyly, and postaxial polydactyly [2]. Preaxial polydactyly, also known as radial or tibial polydactyly, involves medial side of the limb. Central polydactyly involves the second, third and fourth digits. Postaxial polydactyly involves the fifth digit, occurs on the ulnar or fibular side, and is categorized as type A or type B [1]. Postaxial polydactyly type A (PAPA) presents with a well-developed extra dig","cbCaimAHEyqqPllD","https://ap.wps.com/l/cbCaimAHEyqqPllD","pdf",2663999,"English","# Introduction\n## Polydactyly classification and PRKACB-related syndromes\n# Methods\n## Study subject and prenatal genetic testing\n# Results\n## Prenatal findings and de novo variant identification\n# Conclusion","[{\"question\":\"What clinical features were observed in the fetus in this study?\",\"answer\":\"Prenatal ultrasonography revealed bilateral postaxial polydactyly and biometric measurements inconsistent with gestational age, leading to diagnoses of intrauterine growth restriction and polydactyly.\"},{\"question\":\"How was the PRKACB variant identified and validated?\",\"answer\":\"Trio whole-exome sequencing was performed, and the candidate variant was validated by Sanger sequencing, followed by bioinformatics analysis and ACMG guideline-based interpretation.\"},{\"question\":\"What is the significance of the PRKACB c.802 G \\u003e A (p.Asp268Asn) variant?\",\"answer\":\"It was interpreted as likely pathogenic and predicted to alter PRKACB protein structural stability, providing a potential genetic cause of bilateral postaxial polydactyly and expanding the known mutational spectrum.\"}]","A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction - A case report and literature review | PDF",1790590193,18]