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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2010-11, Vol.152A (11), p.2816-2819
Hauptverfasser:	Rijntjes‐Jacobs, Esther G.J., Lopriore, Enrico, Steggerda, Sylke J., Kant, Sarina G., Walther, Frans J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Dermatology epidermal nevus syndrome Fatal Outcome Female Humans Infant, Newborn Jadassohn nevus phakomatosis linear nevus sebaceus syndrome Medical genetics Medical sciences monozygosity mosaicism Mutation - genetics Nevus - complications Nevus - genetics Nevus - pathology Nevus, Sebaceous of Jadassohn - complications Nevus, Sebaceous of Jadassohn - genetics postzygotic mutation Pregnancy Schimmelpenning–Feuerstein–Mims syndrome Tumors of the skin and soft tissue. Premalignant lesions twins Twins, Monozygotic - genetics Zygote - metabolism
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Beschreibung
Zusammenfassung:	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. © 2010 Wiley‐Liss, Inc.
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.33635