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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 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.

SUBMITTER: Smith CE

PROVIDER: S-EPMC5511509 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith Claire El CE Whitehouse Laura LE LL Poulter James A JA Brookes Steven J SJ Day Peter F PF Soldani Francesca F Kirkham Jennifer J Inglehearn Chris F CF Mighell Alan J AJ

European journal of human genetics : EJHG 20170517 8

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. ...[more]

PMID: 28513613

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