Adams-Oliver syndrome caused by mutations of the EOGT gene.
Am J Med Genet A
; 179(11): 2246-2251, 2019 11.
Article
em En
| MEDLINE
| ID: mdl-31368252
ABSTRACT
Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). It shows significant genetic heterogeneity and can be transmitted by autosomal dominant or recessive inheritance. Recessive inheritance is associated with mutations of DOCK6 or EOGT; however, only few cases have been published so far. We present two families with EOGT-associated AOS. Due to pseudodominance in one family, the recognition of the recessive inheritance pattern was difficult. We identified two novel AOS-causing mutations (c.404G>A/p.Cys135Tyr and c.311+1G>T). The phenotype in the presented families was dominated by large ACC, whereas TTLD were mostly subtle or even absent and no major malformations occured. Our observations along with the previously published cases indicate that the two types of recessive AOS (EOGT- vs. DOCK6-associated) differ significanty regarding the frequency of neurologic or ocular deficits.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Dermatoses do Couro Cabeludo
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Displasia Ectodérmica
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N-Acetilglucosaminiltransferases
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Deformidades Congênitas dos Membros
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Predisposição Genética para Doença
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Estudos de Associação Genética
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article