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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

by Miles D. Thompson ^1,* andAlexej Knaus ²¹Krembil Brain Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada²Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, University of Bonn, 53127 Bonn, Germany^*Author to whom correspondence should be addressed.Genes2024, 15(5), 619; https://doi.org/10.3390/genes15050619Submission received: 4 March 2024 / Revised: 8 April 2024 / Accepted: 9 April 2024 / Published: 14 May 2024(This article belongs to the Special Issue Human Developmental Disability, Neurogenetics and Rare Diseases: From Basic Science to Genetic Counseling)
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Abstract

The case report by Mabry et al. (1970) of a family with four children with elevated tissue non-specific alkaline phosphatase, seizures and profound developmental disability, became the basis for phenotyping children with the features that became known as Mabry syndrome. Aside from improvements in the services available to patients and families, however, the diagnosis and treatment of this, and many other developmental disabilities, did not change significantly until the advent of massively parallel sequencing. As more patients with features of the Mabry syndrome were identified, exome and genome sequencing were used to identify the glycophosphatidylinositol (GPI) biosynthesis disorders (GPIBDs) as a group of congenital disorders of glycosylation (CDG).