AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Conclusions Our study shows that a single missense mutation in AMMECR1 causes a phenotype of midface hypoplasia, mild intellectual disability and the presence of elliptocytes, previously reported as part of a contiguous gene deletion syndrome. Functional analysis confirms mutant-specific protein dysfunction. We conclude that AMMECR1 is a critical gene in the pathogenesis of AMME, causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss, and may play a role in dysmorphism, nephrocalcinosis and submucous cleft palate.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access, Genetic screening / counselling, Renal medicine, Calcium and bone, Metabolic disorders New loci Source Type: research