title: A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
abstract: Focal dermal hypoplasia (FDH, Goltz syndrome), is an X-linked dominant mesoectodermal developmental disorder, involving skin, skeleton, eyes, teeth, and other organs. Mutations in PORCN, which stimulates the secretion of wingless family signal proteins, are found in FDH patients. A female fetus presented at 34 weeks gestation with interuterine growth restriction (IUGR), asymmetry, limb anomalies, microphthalmia, and lung anomaly. Focal dermal hypoplasia was confirmed at birth, with hypoplastic areas of skin, malformation of the limbs, diaphragmatic hernia, and ocular anomalies. Mutation analysis of PORCN revealed a nonsense mutation-Y359X. She presented natal teeth, an unexpected feature considering the role of the Wnt pathway in tooth development.
authors: Centro de Genética Médica Dr Jacito Magalhaes -INSA, Genética Médica, Porto, Portugal. cristina.dias@igm.min-saude.pt
authors: Cristina
authors: C
authors: Dias
authors: Jorge
authors: J
authors: Basto
authors: Odilia
authors: O
authors: Pinho
authors: Carla
authors: C
authors: Barbêdo
authors: Marcia
authors: M
authors: Mártins
authors: Dorothea
authors: D
authors: Bornholdt
authors: Ana
authors: A
authors: Fortuna
authors: Karl-Heinz
authors: KH
authors: Grzeschik
authors: Margarida
authors: M
authors: Lima
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000217:Acyltransferases; D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D009306:Natal Teeth; D011247:Pregnancy
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human