Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature

• Published in: European journal of medical genetics Vol. 63; no. 2; p. 103652
• Main Authors: Ting, Chun Yi, Bhatia, Neha Singh, Lim, Jiin Ying, Goh, Chew-Yin Jasmine, Vasanwala, Rashida Farhad, Ong, Caroline Choo-Phaik, Seow, Wan Tew, Yeow, Vincent Kok-Leng, Ting, Teck Wah, Ng, Ivy Swee-Lian, Jamuar, Saumya Shekhar
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.02.2020
• Subjects: anorectal malformations; Craniosynostosis; Diagnostic odyssey; Meier-Gorlin syndrome; whole exome sequencing; anorectal malformations; Diagnostic odyssey; Meier-Gorlin syndrome; Craniosynostosis; whole exome sequencing
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2019.04.009

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.