title: Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kurume University Graduate School of Medicine, Kurume, Japan.
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Haruya
authors.initials: H
authors.lastname: Sakai
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D001120:Arginine / Q000235:genetics; D005220:Fathers; D005998:Glycine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D009030:Mosaicism; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D001120:Arginine; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D005998:Glycine