Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

• Published in: Molecular syndromology Vol. 13; no. 4; pp. 282 - 289
• Main Authors: Selvam, Pavalan, Jain, Angita, Abbott, Jessica, Ahuja, Abhimanyu S., Cheema, Anvir, Bruno, Katelyn A., Atwal, Herjot, Forghani, Irman, Caulfield, Thomas, Atwal, Paldeep S.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.07.2022
• Subjects: Original; Original Article; Pregnancy; Morquio syndrome; Exon 1 deletion
• ISSN: 1661-8769; 1661-8777
• DOI: 10.1159/000519326

In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome. To our knowledge, this is the first reported case of this variant. Additionally, we protein modelled wild-type GALNS and the pathogenic variant with an exon 1 deletion for comparative analysis using statistical mechanics methods described herein. We demonstrate that, even when the protein is translated, the mutation would affect protein stability and function via homodimer interaction modifications. Lastly, given the patient’s 2 successful pregnancies, data about the management of pregnancies in mucopolysaccharidoses are reviewed, and we discuss the management of pregnancy in patients with Morquio syndrome.