Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

Abstract

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 segregate with hypoplastic Amelogenesis imperfecta (AI) 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.

Metadata

Authors/Creators:

Smith, CEL https://orcid.org/0000-0001-8320-5105
Whitehouse, LLE
Poulter, JA https://orcid.org/0000-0003-2048-5693
Brookes, SJ https://orcid.org/0000-0002-9097-7311
Day, PF https://orcid.org/0000-0001-9711-9638
Soldani, F
Kirkham, J
Inglehearn, CF https://orcid.org/0000-0002-5143-2562
Mighell, AJ

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Keywords:

amelogenesis imperfecta; ACPT; acid phosphatase; enamel

Dates: