Discordance for Schimmelpenning–Feuerstein–Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation | Zendy

RijntjesJacobs Esther G.J. | Zendy; Lopriore Enrico | Zendy; Steggerda Sylke J. | Zendy; Kant Sarina G. | Zendy; Walther Frans J. | Zendy

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Discordance for Schimmelpenning–Feuerstein–Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation

Author(s) -

RijntjesJacobs Esther G.J.,

Lopriore Enrico,

Steggerda Sylke J.,

Kant Sarina G.,

Walther Frans J.

Publication year - 2010

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.33635

Subject(s) - craniofacial , genetics , mutation , biology , gene

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.

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