Asunto(s)
Aciltransferasas/genética , Hipoplasia Dérmica Focal/genética , Eliminación de Gen , Proteínas de la Membrana/genética , Mosaicismo , Mutación , Piel/patología , Adolescente , Análisis Mutacional de ADN , Femenino , Hipoplasia Dérmica Focal/enzimología , Hipoplasia Dérmica Focal/patología , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Humanos , Fenotipo , Adulto JovenRESUMEN
Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.
Asunto(s)
Hipoplasia Dérmica Focal/genética , Hipoplasia Dérmica Focal/metabolismo , Proteínas de la Membrana/deficiencia , Transducción de Señal/genética , Proteínas Wnt/metabolismo , Aciltransferasas , Adolescente , Adulto , Niño , Femenino , Hipoplasia Dérmica Focal/enzimología , Humanos , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Linaje , Proteínas Wnt/fisiologíaRESUMEN
We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha-fetoprotein and presence of acetylcholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha-fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.
