Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
Eur J Hum Genet
; 25(8): 1015-1019, 2017 08.
Article
em En
| MEDLINE
| ID: mdl-28513613
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fosfatase Ácida
/
Mutação de Sentido Incorreto
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Amelogênese Imperfeita
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article