A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
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.
Dias
Cristina
C
Centro de Genética Médica Dr Jacito Magalhaes -INSA, Genética Médica, Porto, Portugal. cristina.dias@igm.min-saude.pt
Basto
Jorge
J
Pinho
Odilia
O
Barbêdo
Carla
C
Mártins
Marcia
M
Bornholdt
Dorothea
D
Fortuna
Ana
A
Grzeschik
Karl-Heinz
KH
Lima
Margarida
M
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
D018389:Codon, Nonsense; D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human