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

Molecular syndromology

article

Selvam, Pavalan¹  Jain, Angita¹  Abbott, Jessica¹  Ahuja, Abhimanyu S.²  Cheema, Anvir¹  Bruno, Katelyn A.³  Atwal, Herjot¹  Forghani, Irman⁴  Caulfield, Thomas³  Atwal, Paldeep S.¹ 

[1] Atwal Clinic;Charles E. Schmidt College of Medicine, Florida Atlantic University;Mayo Clinic;Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami

关键词: Morquio syndrome;    Pregnancy;    Exon 1 deletion;   

DOI  :  10.1159/000519326

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

CC BY