Discordance for Schimmelpenning-Feuerstein-Mims Syndrome in Monochorionic Twins Supports the Concept of a Postzygotic Mutation

Author(s):
Rijntjes-Jacobs, E.G.J.; Lopriore, E.; Steggerda, S.J.; Kant, S.G.; Walther, F.J.
Published
2010
Publication type
Article / Letter to editor

Abstract

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.

Schimmelpenning-Feuerstein-Mims syndrome epidermal nevus syndrome linear nevus sebaceus syndrome Jadassohn nevus phakomatosis monozygosity twins postzygotic mutation mosaicism epidermal nevus-syndrome monozygotic twins lethal genes sebaceus phakomatosis pregnancy mosaicism jadassohn
Date issued
2010-11-30
Language
English
Is part of
American Journal of Medical Genetics Part A (2010), Vol. 152A, no. 11, p. 2816-2819
hdl
1887/110257