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Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome
Author(s) -
Watanabe Yoriko,
Sakai Haruya,
Nishimura Akira,
Miyake Noriko,
Saitsu Hirotomo,
Mizuguchi Takeshi,
Matsumoto Naomichi
Publication year - 2008
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.32567
Subject(s) - missense mutation , mutation , somatic cell , germline mutation , genetics , buccal swab , biology , mutation testing , medicine , microbiology and biotechnology , gene
We report on somatic mosaicism of a TGFBR2 missense mutation, c.1336G > A (D446N). The affected son with the heterozygous mutation was previously reported [Sakai et al. (2006); Am J Med Genet A 140A:1719–1725]. Further evaluation indicates his clinical condition is Loeys–Dietz syndrome. Parental blood samples were studied to confirm whether the propositus' mutation was a de novo change, and suggested a trace of the mutation in the father. DNAs extracted from blood leukocytes, buccal cells, hair root cells, and nails in the father indicated 52%, 25%, 0%, and 35% of cells harbored the mutation, respectively. This is the first detailed report of somatic mosaicism of a TGFBR2 mutation. © 2008 Wiley‐Liss, Inc.