Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.
The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation.
Rijntjes-Jacobs
Esther G J
EG
Division of Neonatology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands. e.g.j.rijntjes@kpnplanet.nl
Lopriore
Enrico
E
Steggerda
Sylke J
SJ
Kant
Sarina G
SG
Walther
Frans J
FJ
D000015:Abnormalities, Multiple / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D009506:Nevus / Q000150:complications / Q000235:genetics / Q000473:pathology; D054000:Nevus, Sebaceous of Jadassohn / Q000150:complications / Q000235:genetics*; D011247:Pregnancy; D014430:Twins, Monozygotic / Q000235:genetics*; D015053:Zygote / Q000378:metabolism*