17/05/2017 Biology Medicine
DOI: 10.1038/ejhg.2017.79 SemanticScholar ID: 4541465 MAG: 2616568460

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

Publication Summary

We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture. These findings implicate variants in ACPT as a cause of early failure of amelogenesis during the secretory phase.

CAER Authors

Avatar Image for Peter Day

Dr. Peter Day

University of Leeds - Professor and Consultant in Paediatric Dentistry

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