Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

ABSTRACT: BACKGROUND:Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac abnormalities, and developmental delay. Genes involved in the glycosylphosphatidylinositol pathway and known to be mutated in HPMRS have never been characterized in the Lebanese population. CASE PRESENTATION:Herein, we describe a pair of monozygotic twins presenting with severe intellectual disability, distinct facial dysmorphism, developmental delay, and increased alkaline phosphatase level. Two individuals underwent whole exome sequencing followed by Sanger sequencing to confirm the co-segregation of the mutation in the consanguineous family. A

SUBMITTER: Abi Farraj L 

PROVIDER: S-EPMC6829978 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature